19. ライソゾーム病 ［臨床試験数：399，薬物数：369（DrugBank：77），標的遺伝子数：59，標的パスウェイ数：147］
Searched query = "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann Pick disease", "Niemann Pick type C", "GM1 gangliosidosis", "GM1 gangliosidoses", "GM2 gangliosidosis", "GM2 gangliosidoses", "Tay Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha Mannosidosis", "Alpha Mannosidase Deficiency", "Beta Mannosidosis", "Beta Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"
The queries were searched in Public_title, Scientific_title, and Condition of the data. Export date: 11/20/2019, 11/21/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT04031066 | January 25, 2020 | 29 July 2019 | Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis | A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group, Phase 3 Study to Evaluate the Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis | Alpha-Mannosidosis | Drug: Velmanase Alfa;Drug: Placebo | Chiesi Farmaceutici S.p.A. | Not recruiting | N/A | N/A | All | 12 | Phase 3 | ||
| 2 | NCT03910621 | December 20, 2019 | 16 September 2019 | Safety and Efficacy of Miglustat in Chinese NPC Patients | A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects | Niemann-Pick Disease, Type C | Drug: Miglustat | Actelion | Not recruiting | 4 Years | N/A | All | 18 | Phase 4 | ||
| 3 | NCT04143958 | December 2, 2019 | 4 November 2019 | To Assess the Glycosphingolipid Clearance and Clinical Benefits of Agalsidase Beta in Male Patients With Classic Fabry Disease Switching From Agalsidase Alfa | A Randomized, Open-label, Active Comparator, 2-arm, Prospective Study to Assess the Glycosphingolipid Clearance and Clinical Benefits of Agalsidase Beta (Fabrazyme®) in Male Patients With Classic Fabry Disease Switching From Agalsidase Alfa (Replagal®) | Fabry's Disease | Drug: agalsidase beta (GZ419828);Drug: agalsidase alfa | Sanofi | Not recruiting | 16 Years | 45 Years | Male | 28 | Phase 4 | ||
| 4 | NCT04002830 | November 20, 2019 | 30 September 2019 | A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease | A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease | Gaucher Disease, Type 3 | Drug: Elelyso | Ari Zimran | Pfizer | Not recruiting | N/A | N/A | All | 15 | Phase 4 | India;Israel;Turkey |
| 5 | NCT03887533 | November 13, 2019 | 11 November 2019 | Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 | Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 | Niemann-Pick Disease, Type C1 | Drug: VTS-270 | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Recruiting | 4 Years | 60 Years | All | 30 | Phase 1/Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT03687476 | November 2019 | 28 October 2019 | Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease | An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease | Niemann-Pick Disease, Type C | Drug: VTS-270 | Vtesse, Inc., a Mallinckrodt Pharmaceuticals Company | Not recruiting | N/A | 4 Years | All | 14 | Phase 2 | ||
| 7 | NCT03879655 | November 2019 | 28 October 2019 | Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1 | A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 | Niemann-Pick Disease, Type C | Drug: VTS-270 | Vtesse, Inc., a Mallinckrodt Pharmaceuticals Company | Not recruiting | 4 Years | 21 Years | All | 7 | Phase 2/Phase 3 | ||
| 8 | NCT04125927 | November 2019 | 28 October 2019 | Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2) | Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years Old | Cystinosis | Drug: Mercaptamine | Recordati Rare Diseases | Not recruiting | 6 Months | 2 Years | All | 5 | Phase 3 | ||
| 9 | NCT04049760 | October 31, 2019 | 28 October 2019 | Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease | A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants | Fabry Disease | Drug: migalastat HCl 150 mg | Amicus Therapeutics | Not recruiting | 12 Years | 17 Years | All | 20 | Phase 3 | United States;Spain | |
| 10 | JPRN-JapicCTI-194975 | 01/10/2019 | 5 November 2019 | An multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patients | An multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patients | Fabry disease | Intervention name : Lucerastat INN of the intervention : lucerastat Dosage And administration of the intervention : 1000 mg twice daily Control intervention name : - INN of the control intervention : - Dosage And administration of the control intervention : - | Idorsia Pharmaceuticals Japan Ltd | Not Recruiting | 16 | BOTH | 20 | Phase 3 | Japan | ||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 11 | NCT04088734 | October 2019 | 4 November 2019 | Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease | A Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA Disease | MPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis III | Drug: ABO-102 | Abeona Therapeutics, Inc | Recruiting | N/A | N/A | All | 12 | Phase 1/Phase 2 | United States;Australia;Spain | |
| 12 | NCT03228940 | September 30, 2019 | 8 April 2019 | Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease | An Open-Label Study to Assess the Safety and Effect on Key Biomarkers of Oral RVX000222 in Subjects With Fabry Disease | Fabry Disease | Drug: RVX000222 | Resverlogix Corp | Not recruiting | 18 Years | 75 Years | All | 16 | Phase 1/Phase 2 | Canada | |
| 13 | NCT04020055 | September 30, 2019 | 29 July 2019 | A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variants and Severe Renal Impairment | An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Fabry Subjects With Amenable GLA Variants and Severe Renal Impairment | Fabry Disease | Drug: migalastat HCl 150 mg | Amicus Therapeutics | Not recruiting | 16 Years | N/A | All | 12 | Phase 3 | United States;Belgium;France;Italy;Spain;United Kingdom | |
| 14 | JPRN-jRCTs061190017 | 26/09/2019 | 7 October 2019 | Japan-Ambroxol Chaperone Study | 2 cohort, Non-randomized, Multi-site Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride in Patients with Neuronopathic Gaucher disease - J-ACT | Neuronopathic Gaucher disease | Ambroxol will be given. | Aya Narita | Not Recruiting | Not applicable | Not applicable | Both | 25 | Phase 3 | none | |
| 15 | NCT03759639 | September 4, 2019 | 4 November 2019 | N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) | Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. | Niemann-Pick Disease, Type C | Drug: IB1001 | IntraBio Inc | Recruiting | 6 Years | N/A | All | 39 | Phase 2 | United States;Germany;Slovakia;Spain;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 16 | NCT04018755 | September 2019 | 29 July 2019 | Open-label Study of Anakinra in MPS III | Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III | Mucopolysaccharidosis III | Biological: anakinra | Los Angeles Biomedical Research Institute | Cure Sanfilippo Foundation;Sobi | Not recruiting | 4 Years | N/A | All | 20 | Phase 2/Phase 3 | United States |
| 17 | NCT03952637 | August 19, 2019 | 22 October 2019 | Intravenous Gene Transfer With an AAV9 Vector Expressing Human <=-Galactosidase in Type II GM1 Gangliosidosis | A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type II GM1 Gangliosidosis | Lysosomal Diseases;Gangliosidosis;GM1 | Biological: AAV9-GLB1 | National Human Genome Research Institute (NHGRI) | Axovant Sciences, Inc. | Recruiting | 2 Years | 12 Years | All | 12 | Phase 1/Phase 2 | United States |
| 18 | NCT04069260 | August 2, 2019 | 4 November 2019 | A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis | A Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense Mutations | Genetic Disease;Nonsense Mutation;Cystinosis | Drug: ELX-02 | Eloxx Pharmaceuticals, Inc. | Recruiting | 12 Years | N/A | All | 6 | Phase 2 | Canada | |
| 19 | NCT03021941 | July 31, 2019 | 7 October 2019 | Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease | A MULTICENTER, OPEN LABEL, PHARMACOKINETICS, PHARMACODYNAMICS AND SAFETY STUDY OF ELELYSO(TM) (TALIGLUCERASE ALFA) IN PEDIATRIC SUBJECTS WITH TYPE 1 GAUCHER DISEASE | Type 1 Gaucher Disease | Drug: Elelyso 60 units/kg | Pfizer | Not recruiting | N/A | 12 Years | All | 0 | Phase 4 | United States | |
| 20 | NCT04046224 | July 23, 2019 | 4 November 2019 | Dose-Ranging Study of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease | A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects With Fabry Disease | Fabry Disease | Biological: ST-920 | Sangamo Therapeutics | Recruiting | 18 Years | N/A | Male | 18 | Phase 1/Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 21 | NCT03775174 | June 24, 2019 | 16 September 2019 | Individual Patient Compassionate Use of Mepsevii | MPS VII;Mucopolysaccharidosis VII;Sly Syndrome | Drug: Mepsevii | Ultragenyx Pharmaceutical Inc | Not recruiting | N/A | N/A | All | N/A | ||||
| 22 | NCT03759665 | June 7, 2019 | 4 November 2019 | N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) | Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study | GM2 Gangliosidosis;Tay-Sachs Disease;Sandhoff Disease | Drug: IB1001 | IntraBio Inc | Recruiting | 6 Years | N/A | All | 39 | Phase 2 | United States;Germany;Spain;United Kingdom | |
| 23 | NCT00962260 | June 2019 | 17 September 2018 | Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease | An Open-label Expanded Access Trial of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Who Require Enzyme Replacement Therapy | Gaucher Disease | Drug: Plant cell expressed recombinant glucocerebrosidase (prGCD) | Pfizer | Not recruiting | 18 Years | N/A | All | Phase 4 | United States;Israel | ||
| 24 | NCT04145037 | May 30, 2019 | 4 November 2019 | Phase 1/2 Lentiviral Vector Gene Therapy AVR-RD-02 for Subjects With Type 1 Gaucher Disease | An Adaptive, Open-Label, Multinational Phase 1/2 Study Of The Safety and Efficacy of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-02 for Subjects With Type 1 Gaucher Disease | Gaucher Disease | Drug: AVR-RD-02 | AvroBio | Recruiting | 16 Years | 35 Years | All | 16 | Phase 1/Phase 2 | Canada | |
| 25 | NCT03949920 | May 16, 2019 | 2 September 2019 | A Study of Migalastat in Fabry Disease | A Prospective Observational Study Investigating the Impact of Migalastat on Cardiovascular Structure and Function in Fabry Disease | Fabry Disease | Drug: Migalastat | Manchester University NHS Foundation Trust | Salford Royal NHS Foundation Trust | Recruiting | 16 Years | N/A | All | 21 | N/A | United Kingdom |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 26 | JPRN-JMA-IIA00421 | 07/05/2019 | 10 September 2019 | Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study) | Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study) | Neuronopathic Gaucher disease | Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:TABLET, Route of administration:ORAL. | Tottori University Hospital, Departrment of Child Neurology | Not Recruiting | No Limit | No Limit | BOTH | 3 | Phase 2-3 | Japan | |
| 27 | JPRN-JapicCTI-194731 | 30/4/2019 | 16 July 2019 | An open-label phase 3 study of lucerastat in Japanese subjects with Fabry disease | A multicenter, open-label study to determine the efficacy and safety of lucerastat oral therapy in Japanese subjects with Fabry disease | Fabry disease | Intervention name : ACT-434964 INN of the intervention : Lucerastat Dosage And administration of the intervention : 1000mg twice a day, oral administration Control intervention name : - INN of the control intervention : - Dosage And administration of the control intervention : - | Idorsia Pharmaceuticals Japan Ltd | Not Recruiting | 16 | BOTH | 20 | Phase 3 | Japan | ||
| 28 | NCT03771898 | April 30, 2019 | 28 October 2019 | A Study of Intrathecal SHP611 in Participants With Late Infantile Metachromatic Leukodystrophy | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects With Late Infantile Metachromatic Leukodystrophy | Metachromatic Leukodystrophy (MLD) | Drug: SHP611 | Shire | Recruiting | 6 Months | 72 Months | All | 42 | Phase 2 | United States;Belgium;Brazil;Canada;France;Germany;Israel;Mexico;Netherlands;Spain;United Kingdom;Denmark;Japan | |
| 29 | NCT03950050 | March 1, 2019 | 7 October 2019 | Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy | Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy | Gaucher Disease, Type 1 | Drug: Ambroxol | Shaare Zedek Medical Center | Recruiting | 18 Years | 75 Years | All | 60 | Phase 2 | Israel | |
| 30 | NCT03893071 | March 2019 | 8 April 2019 | Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPßCD) in Niemann-Pick Disease Type C | An Open-Label Extension Study of the Long-Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) | Niemann-Pick Disease, Type C1 | Drug: Hydroxypropyl-ß-cyclodextrin | CTD Holdings, Inc. | Recruiting | 18 Years | N/A | All | 12 | Phase 1 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 31 | NCT03471143 | February 22, 2019 | 26 August 2019 | Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C | Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C | Niemann-Pick Disease, Type C | Drug: 2-Hydroxypropyl-Beta-Cyclodextrin | Washington University School of Medicine | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Recruiting | N/A | 6 Months | All | 12 | Phase 1/Phase 2 | United States |
| 32 | EUCTR2018-001148-67-ES | 08/02/2019 | 28 February 2019 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: PEGUNIGALSIDASE ALFA CAS Number: 1644392-61-9 Current Sponsor code: PRX-102 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Protalix Ltd. | Authorised | Female: yes Male: yes | 110 | Phase 3 | United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany | |||
| 33 | NCT03811028 | January 23, 2019 | 4 November 2019 | A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients | An Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients | Sanfilippo Syndrome Type A (MPS IIIA) | Drug: SOBI003 | Swedish Orphan Biovitrum | Recruiting | 18 Months | 78 Months | All | 9 | Phase 1/Phase 2 | United States;Turkey | |
| 34 | JPRN-JMA-IIA00416 | 17/01/2019 | 7 October 2019 | A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease | A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease | Mucopolysaccharidosis type7 | Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:INJECTION, Route of administration:INTRAVENOUS DRIP, intended dose regimen:UX003 is a sterile liquid buffered saline formulation of rhGUS that contains enzyme at a concentration of 2 mg/mL filled to allow the withdrawal of a 5.0 mL deliverable volume and supplied in a 10 mL glass vial. UX003 will be intravenously administered at dose of 4 mg/kg every other week. UX003 will be sterilely diluted in saline and transferred to infusion bag. Administration of undiluted UX003 is prohibited. The rate of infusion will be determined to administer 2.5% of diluted UX003 for the first one hour and rest of the drug for 3 hours.. Control intervention1:NOT APPLICABLE. | Osaka City University Hospital takashi hamazaki | NOT APPLICABLE | Recruiting | >=4 YEARS | <=40 YEARS | BOTH | 3 | Phase 2 | Japan |
| 35 | NCT03822013 | January 14, 2019 | 11 February 2019 | Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) | Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases | GM2 Gangliosidosis;Supportive Care | Drug: Miglustat | Tehran University of Medical Sciences | Mashhad University of Medical Sciences;Kashan University of Medical Sciences | Recruiting | 6 Months | 24 Months | All | 30 | Phase 3 | Iran, Islamic Republic of |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 36 | NCT03708965 | January 1, 2019 | 15 July 2019 | An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II | An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | Recruiting | N/A | N/A | Male | 18 | Phase 2 | Brazil | |
| 37 | EUCTR2018-000195-15-FR | 27/12/2018 | 30 April 2019 | An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type A | An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA | Mucopolysaccharidosis Type IIIA MedDRA version: 20.1 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: LYS-SAF302 Product Code: LYS-SAF302 Pharmaceutical Form: Injection INN or Proposed INN: olenasufligene relduparvovec Current Sponsor code: LYS-SAF302 Other descriptive name: LYS-SAF302 Concentration unit: vector genomes (vg)/mL Concentration type: equal Concentration number: 2.4E+12- | Lysogene SA | Authorised | Female: yes Male: yes | 20 | Phase 2;Phase 3 | United States;France;Netherlands;Germany;United Kingdom | |||
| 38 | NCT03737214 | December 18, 2018 | 4 November 2019 | A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease | A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease | Fabry Disease | Drug: Lucerastat | Idorsia Pharmaceuticals Ltd. | Recruiting | 18 Years | N/A | All | 108 | Phase 3 | United States;Australia;Austria;Belgium;Canada;Germany;Ireland;Netherlands;Poland;United Kingdom;Czechia;France | |
| 39 | NCT04002531 | November 10, 2018 | 15 July 2019 | Follow up Study of Adults Treated With Replagal as Children | A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children | Quality of Life;Renal Insufficiency;Cardiac Event | Other: General and Neurological examination;Other: Vital signs;Procedure: 12 lead electrocardiogram;Procedure: Echocardiogram;Procedure: Blood draw;Procedure: Urine collection;Procedure: 2-hour Holter Monitor;Other: Brief Pain Inventory questionnaire;Other: Quality of Life questionnaire | Baylor Research Institute | Shire | Recruiting | 18 Years | N/A | All | 12 | N/A | United States |
| 40 | NCT03614234 | November 6, 2018 | 14 October 2019 | Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients | Open Label Extension Study to Evaluate the Long-term Safety and Efficacy of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Adult Patients With Fabry Disease | Fabry Disease | Biological: pegunigalsidase alfa | Protalix | Recruiting | 18 Years | N/A | All | 40 | Phase 3 | United States;Belgium;Czechia;Denmark;Italy;Norway;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 41 | NCT03725670 | October 30, 2018 | 30 September 2019 | Lentiviral Gene Therapy for MLD | Gene Therapy for Metachromatic Leukodystrophy (MLD) Using a Self-inactivating Lentiviral Vector (TYF-ARSA) | Metachromatic Leukodystrophy (MLD) | Biological: Lentivirus-mediated delivery of ARSA to the CNS. | Shenzhen Geno-Immune Medical Institute | Recruiting | 1 Month | N/A | All | 10 | N/A | China | |
| 42 | EUCTR2016-002328-10-NL | 29/10/2018 | 12 November 2018 | Gene Therapy in patients with Mucopolysaccharidosis disease | A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects with Mucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the human ARSB gene to Liver. | The clinical trial will be conducted on patients with Mucopolysaccharidosis Type VI. MPS VI is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: AAV2/8.TBG.hARSB Product Code: not applicable Pharmaceutical Form: Solution for infusion INN or Proposed INN: NA CAS Number: NA Current Sponsor code: AAV2/8.TBG.hARSB Other descriptive name: ADENO-ASSOCIATED VIRAL (AAV) SEROTYPE 8 (AAV2/8) VECTOR WITH LIVER-SPECIFIC THYROXINE-BINDING GLOBULIN (TBG) PROMOTER, DRIVING THE EXPRESSION OF THE HUMAN ARSB GENE Concentration unit: U unit(s) Concentration type: equal Concentration number: 25900000000000- | FONDAZIONE TELETHON | Authorised | Female: yes Male: yes | 10 | Phase 1 | Turkey;Netherlands;Italy | |||
| 43 | NCT03643562 | October 24, 2018 | 11 March 2019 | An Open-label Treatment Protocol for VTS-270 in Patients With Neurologic Manifestations of NPC | An Open-label Expanded Access Treatment Protocol for VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) | Niemann-Pick Type C Disease | Drug: VTS270 | Vtesse, Inc., a Mallinckrodt Pharmaceuticals Company | Not recruiting | 4 Years | N/A | All | Phase 2 | United States | ||
| 44 | NCT03500094 | October 11, 2018 | 28 October 2019 | Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) | An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 12 to <18 Years) With Fabry Disease and Amenable GLA Variants | Fabry Disease | Drug: migalastat HCl 150 mg | Amicus Therapeutics | Recruiting | 12 Years | 17 Years | All | 20 | Phase 3 | United States;Spain;United Kingdom | |
| 45 | NCT03639844 | September 28, 2018 | 22 October 2019 | BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study | Expanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR aß+T Cells In Pediatric Patients Affected by Hematological and Other Disorders | Hurler Syndrome;Inherited Metabolic Disorder;Lysosomal Storage Disorder;Metachromatic Leukodystrophy;Inborn Errors of Metabolism | Biological: rivogenlecleucel;Drug: rimiducid | Bellicum Pharmaceuticals | Not recruiting | 3 Months | 21 Years | All | N/A | United States | ||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 46 | NCT03566017 | September 20, 2018 | 3 December 2018 | Extension Study of 1 mg/kg Pegunigalsidase Alfa in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Fabry Disease | Biological: pegunigalsidase alfa | Protalix | Recruiting | 18 Years | 60 Years | All | 110 | Phase 3 | United States;Australia;Canada;Czechia;Hungary;Netherlands;Norway;Slovenia;Spain;United Kingdom | |
| 47 | NCT03632213 | September 12, 2018 | 17 September 2018 | Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI | A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI | Mucopolysaccharidosis IV A;Mucopolysaccharidosis VI;Mucopolysaccharidoses;MPS IV A;MPS VI;MPS - Mucopolysaccharidosis;Morquio A Syndrome;Morquio Syndrome A;Morquio Syndrome | Drug: Losartan;Drug: Placebo | Hospital de Clinicas de Porto Alegre | The Isaac Foundation | Not recruiting | 10 Years | 40 Years | All | 30 | Phase 2 | Brazil |
| 48 | EUCTR2014-001411-39-ES | 04/09/2018 | 10 September 2018 | Gene transfer clinical trial for Mucopolysaccharidosis IIIB | Phase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB | MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rAAV9.CMV.hNAGLU Product Code: rAAV9.CMV.hNAGLU Pharmaceutical Form: Solution for infusion INN or Proposed INN: rAAV9.CMV.hNAGLU Current Sponsor code: rAAV9.CMV.hNAGLU Other descriptive name: rAAV9.CMV.hNAGLU Concentration unit: IU/ml international unit(s)/millilitre Concentration type: equal Concentration number: 50000000000000- | Abeona Therapeutics Inc | Authorised | Female: yes Male: yes | 9 | Phase 1;Phase 2 | France;United States;Spain;Netherlands;Germany;Italy;United Kingdom | |||
| 49 | NCT03702361 | September 4, 2018 | 4 March 2019 | Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease | Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease: An Investigator-initiated Study | Primary Disease | Drug: VPRIV | Shaare Zedek Medical Center | Recruiting | 6 Years | 75 Years | All | 15 | Phase 4 | Israel | |
| 50 | EUCTR2018-000206-28-GB | 14/08/2018 | 30 April 2019 | A phase 1/2 study to evaluate the safety and tolerability of SB-318, a rAAV2/6-based Gene Therapy, in patients with Mucopolysaccharidosis I (MPS I) | A Phase 1/2, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects with Mucopolysaccharidosis I (MPS I) | Mucopolysaccharidosis type I (MPS I) MedDRA version: 20.1 Level: PT Classification code 10056886 Term: Mucopolysaccharidosis I System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: rAAV2/6 Left ZFN Vector Product Code: SB-47171 Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not yet assigned CAS Number: 2143578-31-6 Current Sponsor code: SB-47171 Other descriptive name: Adeno-associated virus serotype 2/6 encoding Left side-zinc finger nuclease (ZFN1), SB-A6P-ZLEFT Vector Concentration unit: vector genomes (vg)/mL Concentration type: equal Concentration number: 10000000000000- Product Name: rAAV2/6 Right ZFN Vector Product Code: SB-47898 Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not yet assigned CAS Number: 2143578-32-7 Current Sponsor code: SB-47898 Other descriptive name: Adeno-associated virus serotype 2/6 encoding Right side-zinc finger nuclease (ZFN2), SB-A6P-ZRIGHT Vector Concentration unit: vector genomes (vg)/mL Concentration type: equal Concentration number: 10000000000000- Product Name: SB-A6P-HRL Donor Vector Product Code: SB-IDUA Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not yet assigned CAS Number: 2143580-11-2 Current Sponsor code: SB-IDUA Other descriptive name: Adeno-associated virus serotype 2/6 encoding human iduronidase (hIDUA) gene donor vector, SB-A6P-HRL Donor Vector Concentration unit: vector genomes (vg)/mL Concentration type: equal Concentration number: 10000000000000- | Sangamo Therapeutics, Inc. | Authorised | Female: yes Male: yes | 27 | Phase 1;Phase 2 | United States;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 51 | NCT03568175 | August 1, 2018 | 21 January 2019 | A Study of JR-141 in Patients With Mucopolysaccharidosis II | A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | Not recruiting | N/A | N/A | Male | 20 | Phase 2/Phase 3 | Japan | |
| 52 | NCT03359213 | July 26, 2018 | 11 March 2019 | A Study of JR-141 in Patients With Mucopolysaccharidosis II | Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | Not recruiting | N/A | N/A | Male | 18 | Phase 2 | Brazil | |
| 53 | EUCTR2017-003369-85-AT | 29/06/2018 | 28 February 2019 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY | Fabry disease MedDRA version: 20.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 Pharmaceutical Form: Capsule, hard INN or Proposed INN: Lucerastat Current Sponsor code: ACT-434964 Other descriptive name: OGT923 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 250- Pharmaceutical form of the placebo: Capsule, hard Route of administration of the placebo: Oral use | Idorsia Pharmaceuticals Ltd | Authorised | Female: yes Male: yes | 108 | Phase 3 | United States;Canada;Austria;Netherlands;United Kingdom;Switzerland | |||
| 54 | NCT03425539 | June 21, 2018 | 4 November 2019 | Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease | A Multicenter, dOuble-blind, ranDomized, Placebo-controlled, Parallel-group Study to Determine the effIcacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With FabrY Disease | Fabry Disease | Drug: Lucerastat;Drug: Placebo | Idorsia Pharmaceuticals Ltd. | Recruiting | 18 Years | N/A | All | 108 | Phase 3 | United States;Australia;Austria;Belgium;Canada;Germany;Ireland;Netherlands;Poland;United Kingdom;Czechia;France | |
| 55 | NCT03423186 | June 19, 2018 | 15 July 2019 | A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients | An Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA Patients | Sanfilippo Syndrome Type A (MPS IIIA) | Drug: SOBI003 | Swedish Orphan Biovitrum | Recruiting | 12 Months | 72 Months | All | 9 | Phase 1/Phase 2 | United States;Germany;Turkey | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 56 | NCT03513328 | June 15, 2018 | 3 June 2019 | Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation | PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders | Bone Marrow Failure Syndrome;Thalassemia;Sickle Cell Disease;Diamond Blackfan Anemia;Acquired Neutropenia in Newborn;Acquired Anemia Hemolytic;Acquired Thrombocytopenia;Hemophagocytic Lymphohistiocytoses;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Common Variable Immunodeficiency;X-linked Lymphoproliferative Disease;Severe Combined Immunodeficiency;Hurler Syndrome;Mannosidosis;Adrenoleukodystrophy | Drug: Thiotepa--single daily dose;Drug: Thiotepa--escalated dose | University of Florida | Live Like Bella Pediatric Cancer Research | Recruiting | 6 Months | 38 Years | All | 40 | Phase 1/Phase 2 | United States |
| 57 | NCT03746587 | June 6, 2018 | 16 September 2019 | Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 | Multicentre Double-blinded, Randomized Placebo-controlled Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 | Gaucher Disease, Type 1;Gaucher Disease, Type 3 | Drug: Arimoclomol;Drug: Placebo oral capsule | Orphazyme | Not recruiting | 4 Years | 60 Years | All | 39 | Phase 2 | India | |
| 58 | EUCTR2017-001528-23-CZ | 07/05/2018 | 28 February 2019 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: Pegunigalsidase alfa CAS Number: 1644392-61-9 Current Sponsor code: PRX-102 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Protalix Ltd. | Authorised | Female: yes Male: yes | 30 | Phase 3 | United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway | |||
| 59 | NCT03519646 | April 23, 2018 | 8 April 2019 | Eliglustat on Gaucher Disease Type IIIB | Evaluation of the Safety in the Combination Usage of Cerdelga and Cerezyme in Type III Gaucher Disease Patients and the Efficacy on Soft Tissue Diseases. | Gaucher Disease, Type III | Drug: Eliglustat | National Taiwan University Hospital | Sanofi | Not recruiting | 6 Years | N/A | All | 4 | N/A | Taiwan |
| 60 | NCT03485677 | April 11, 2018 | 11 November 2019 | Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 | Open Label, Two Cohort (With and Without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients With Gaucher Disease Type 1 and Type 3 | Gaucher's Disease Type I;Gaucher's Disease Type III | Drug: Eliglustat GZ385660;Drug: Imiglucerase GZ437843 | Sanofi | Recruiting | 2 Years | 17 Years | All | 60 | Phase 3 | Argentina;Canada;France;Italy;Russian Federation;Spain;Sweden;Turkey;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 61 | NCT03721627 | April 3, 2018 | 5 November 2018 | Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. | Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed Dose Combination Therapy in Treatment of Chronic Hepatitis C Infection in Egyptian Children With Gaucher Disease | Gaucher Disease;HCV | Drug: Ledipasvir/Sofosbuvir | Mansoura University Children Hospital | Recruiting | 6 Years | 18 Years | All | 10 | Phase 4 | Egypt | |
| 62 | NCT03454893 | February 21, 2018 | 9 September 2019 | Open-Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment -Naive Subjects With Classic Fabry Disease | An Open-Label, Multinational Study Of The Efficacy And Safety Of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-01 For Treatment-Naive Subjects With Classic Fabry Disease | Fabry Disease | Drug: AVR-RD-01 | AvroBio | Recruiting | 16 Years | 50 Years | Male | 12 | Phase 1/Phase 2 | Australia | |
| 63 | NCT03784287 | February 19, 2018 | 9 September 2019 | A Treatment Extension Study of Mucopolysaccharidosis Type IIIB | A Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular BMN 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB;MPS III B | Drug: BMN 250 | BioMarin Pharmaceutical | Recruiting | N/A | 18 Years | All | 33 | Phase 2 | United States;Germany;Spain;Taiwan;Turkey;United Kingdom | |
| 64 | NCT03204370 | February 1, 2018 | 25 February 2019 | Natural History of Atypical Morquio A Disease | Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center | Mucopolysaccharidosis IV A | Drug: Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM] | GOIZET | BioMarin Pharmaceutical | Recruiting | 18 Years | N/A | All | 9 | N/A | France |
| 65 | EUCTR2018-000195-15-NL | 1 October 2018 | An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type A | An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA | Mucopolysaccharidosis Type IIIA MedDRA version: 20.1 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: LYS-SAF302 Product Code: LYS-SAF302 Pharmaceutical Form: Injection INN or Proposed INN: olenasufligene relduparvovec Current Sponsor code: LYS-SAF302 Other descriptive name: LYS-SAF302 Concentration unit: vector genomes (vg)/mL Concentration type: equal Concentration number: 2.4E+12- | Lysogene SA | Not Available | Female: yes Male: yes | 20 | Phase 2;Phase 3 | France;United States;Germany;Netherlands;United Kingdom | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 66 | NCT03370653 | December 30, 2017 | 11 November 2019 | A Study in MPS VI to Assess Safety and Efficacy of Odiparcil | A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI | Mucopolysaccharidosis VI | Drug: Odiparcil;Other: Placebo | Inventiva Pharma | Not recruiting | 16 Years | N/A | All | 20 | Phase 2 | France;Germany;Portugal;United Kingdom | |
| 67 | NCT02939547 | October 11, 2017 | 11 November 2019 | Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) | A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease | Niemann-Pick Disease, Type C1 | Drug: Hydroxypropyl-beta-cyclodextrin | CTD Holdings, Inc. | Not recruiting | 18 Years | N/A | All | 12 | Phase 1 | United States | |
| 68 | NCT03180840 | September 27, 2017 | 7 October 2019 | Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients | Phase 3, Open-Label, Switch Over Study to Assess Safety, Efficacy & PK of Pegunigalsidase Alfa 2 mg/kg Administered Every 4 Weeks for 52 Weeks in Fabry Disease Patients Currently Treated With Enzyme Replacement Therapy: Fabrazyme® (Agalsidase Beta) or Replagal™ (Agalsidase Alfa) | Fabry Disease | Biological: Pegunigalsidase alfa | Protalix | Not recruiting | 18 Years | 60 Years | All | 30 | Phase 3 | United States;Belgium;Canada;Czechia;Denmark;Italy;Netherlands;Norway;Spain;Taiwan;Turkey;United Kingdom | |
| 69 | EUCTR2017-000645-48-FI | 21/09/2017 | 16 October 2017 | Cystadane in the treatment of AGU | Open-label study to evaluate efficacy and safety of Cystadane for the treatment of aspartylglucosaminuria - Cystadane in the treatment of AGU | Aspartylglucosaminuria;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Cystadane anhydrous Pharmaceutical Form: Oral powder | Minna Laine | Prof. Ritva Tikkanen | Authorised | Female: yes Male: yes | Phase 2 | Finland | |||
| 70 | EUCTR2017-001528-23-BE | 21/08/2017 | 30 October 2017 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: Pegunigalsidase alfa CAS Number: 1333358-30-7 Current Sponsor code: PRX-102 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Protalix Ltd. | Authorised | Female: yes Male: yes | 30 | Phase 3 | United States;Canada;Belgium;Turkey;Netherlands;Germany;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 71 | NCT03173521 | July 17, 2017 | 4 February 2019 | Gene Therapy in Patients With Mucopolysaccharidosis Disease | A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects With Mucopolysaccharidosis Type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the Human ARSB Gene to Liver | Mucopolysaccharidosis Type VI | Biological: AAV2/8.TBG.hARSB | Fondazione Telethon | Recruiting | 4 Years | 65 Years | All | 10 | Phase 1/Phase 2 | Italy;Netherlands;Turkey | |
| 72 | NCT03201627 | July 5, 2017 | 7 October 2019 | Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease | a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type | Niemann-Pick Disease, Type C1 | Drug: Lithium Carbonate | Xinhua Hospital, Shanghai Jiao Tong University School of Medicine | Not recruiting | 7 Years | 40 Years | All | 18 | Early Phase 1 | China | |
| 73 | NCT02921620 | July 2017 | 18 January 2018 | Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease | A Randomized, Double Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Patients | Fabry Disease | Biological: PRX-102;Other: Placebo | Protalix | Not recruiting | 14 Years | 45 Years | Male | 0 | Phase 3 | ||
| 74 | NCT03153319 | June 5, 2017 | 15 July 2019 | Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I and II | Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I and II | Mucopolysaccharidosis I;Mucopolysaccharidosis II | Drug: Adalimumab Injection [Humira];Drug: Saline Solution for Injection | Los Angeles Biomedical Research Institute | Recruiting | 5 Years | N/A | All | 14 | Phase 1/Phase 2 | United States | |
| 75 | EUCTR2016-000378-38-NL | 24/05/2017 | 28 February 2019 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: Pegunigalsidase alpha CAS Number: 1333358-30-7 Current Sponsor code: PRX-102 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- Trade Name: Fabrazyme Product Name: Fabrazyme Pharmaceutical Form: Powder for concentrate for solution for infusion INN or Proposed INN: AGALSIDASE BETA CAS Number: 104138-64-9 Current Sponsor code: N/A Other descriptive name: N/A Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 35 - Trade Name: Fabrazyme Product Name: Fabrazyme Pharmaceutical Form: Powder for concentrate for solution for infusion INN or Proposed INN: AGALSIDASE BETA CAS Number: 104138-64-9 Current Sponsor code: N/A Other descriptive name: N/A Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 5 - | Protalix Ltd. | Authorised | Female: yes Male: yes | 78 | Phase 3 | United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 76 | NCT02702115 | May 24, 2017 | 2 September 2019 | Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I | A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis I (MPS I) | MPS I | Biological: SB-318 | Sangamo Therapeutics | Not recruiting | 5 Years | N/A | All | 3 | Phase 1/Phase 2 | United States | |
| 77 | NCT03041324 | May 11, 2017 | 11 November 2019 | Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II | A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis II (MPS II) | Mucopolysaccharidosis II;MPS II | Biological: SB-913 | Sangamo Therapeutics | Not recruiting | 5 Years | N/A | All | 9 | Phase 1/Phase 2 | United States | |
| 78 | NCT03128593 | March 30, 2017 | 16 December 2017 | A Study of JR-141 in Patients With Mucopolysaccharidosis Type II | A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | Not recruiting | 6 Years | N/A | Male | 12 | Phase 1/Phase 2 | Japan | |
| 79 | NCT02956954 | March 25, 2017 | 11 June 2018 | Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease | Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease (AFD): Impact of Treatment by Agalsidase Alpha (Replagal®) | Anderson-Fabry Disease | Drug: Enzyme replacement therapy (Agalsidase alpha (Replagal®));Procedure: Magnetic Resonance Imaging | University Hospital, Rouen | Recruiting | 18 Years | N/A | All | 25 | N/A | France | |
| 80 | EUCTR2016-001318-11-GB | 24/03/2017 | 3 April 2017 | Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 19.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 Pharmaceutical Form: Solution for injection INN or Proposed INN: Pegunigalsidase alpha CAS Number: 1333358-30-7 Current Sponsor code: PRX-102 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Protalix Ltd. | Authorised | Female: yes Male: yes | 22 | Phase 3 | Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 81 | NCT02912793 | March 20, 2017 | 11 November 2019 | Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients | A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes | Niemann-Pick Disease, Type C1 | Drug: Hydroxypropyl-beta-cyclodextrin | CTD Holdings, Inc. | Recruiting | 2 Years | N/A | All | 12 | Phase 1/Phase 2 | Israel;Sweden;United Kingdom | |
| 82 | EUCTR2015-005761-23-SE | 19/01/2017 | 5 February 2018 | A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patients | A Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes | Niemann-Pick disease type C MedDRA version: 19.1 Level: PT Classification code 10029403 Term: Niemann-Pick disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Trappsol Cyclo Pharmaceutical Form: Solution for infusion INN or Proposed INN: hydroxypropyl-beta-cyclodextrin CAS Number: 128446-35-5 Current Sponsor code: Trappsol Cyclo Other descriptive name: hydroxypropyl-beta-cyclodextrin Concentration unit: % (W/V) percent weight/volume Concentration type: equal Concentration number: 25- | CTD Holdings, Inc. | Authorised | Female: yes Male: yes | 12 | Phase 1;Phase 2 | Italy;United Kingdom;Sweden | |||
| 83 | NCT02843035 | January 4, 2017 | 14 October 2019 | GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 | A 52-week Two-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 | Gaucher Disease Type 1-Gaucher Disease Type 3 | Drug: GZ402671 | Genzyme, a Sanofi Company | Recruiting | 18 Years | N/A | All | 10 | Phase 2 | United States;Germany;Japan;United Kingdom | |
| 84 | EUCTR2017-002158-35-FR | 10 October 2018 | Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VI | A phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. - iMProveS | Mucopolysaccharidosis (MPS) type VI. MedDRA version: 20.1 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Odiparcil Product Code: IVA 336 Pharmaceutical Form: Film-coated tablet INN or Proposed INN: Odiparcil CAS Number: 137215-12-4 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 250- Pharmaceutical form of the placebo: Film-coated tablet Route of administration of the placebo: Oral use | Inventiva S.A. | Not Available | Female: yes Male: yes | 24 | Phase 2 | France;Germany;United Kingdom | ||||
| 85 | EUCTR2017-002158-35-PT | 7 January 2019 | Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VI | A phase IIa study to investigate safety, pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. | Mucopolysaccharidosis (MPS) type VI. MedDRA version: 20.1 Level: PT Classification code 10056892 Term: Mucopolysaccharidosis VI System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Odiparcil Product Code: IVA 336 Pharmaceutical Form: Film-coated tablet INN or Proposed INN: Odiparcil CAS Number: 137215-12-4 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 250- Pharmaceutical form of the placebo: Film-coated tablet Route of administration of the placebo: Oral use | Inventiva S.A. | Not Available | Female: yes Male: yes | 24 | Phase 2 | France;Portugal;Germany;United Kingdom | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 86 | EUCTR2017-002806-10-DE | 30 April 2019 | An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients | An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients | Mucopolysaccharidosis Type IIIA or Sanfilippo Syndrome MedDRA version: 20.1 Level: LLT Classification code 10028094 Term: Mucopolysaccharidosis IH System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Chemically modified recombinant human sulfamidase Product Code: SOBI003 Pharmaceutical Form: Solution for injection/infusion Current Sponsor code: SOBI003 Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 20mg/ml- | Swedish Orphan Biovitrum AB (publ) | Not Available | Female: yes Male: yes | 9 | Phase 1 | United States;Turkey;Netherlands;Germany | ||||
| 87 | EUCTR2017-002806-10-NL | 12 November 2018 | An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients | An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients | Mucopolysaccharidosis Type IIIA or Sanfilippo Syndrome MedDRA version: 20.1 Level: LLT Classification code 10028094 Term: Mucopolysaccharidosis IH System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Chemically modified recombinant human sulfamidase Product Code: SOBI003 Pharmaceutical Form: Solution for injection/infusion INN or Proposed INN: not applicable CAS Number: NA Current Sponsor code: SOBI003 Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 20- | Swedish Orphan Biovitrum AB (publ) | Not Available | Female: yes Male: yes | 9 | Phase 1 | United States;Turkey;Germany;Netherlands | ||||
| 88 | NCT02663024 | December 2016 | 1 February 2016 | Study of Idursulfase-beta (GC1111) in Hunter Syndrome | Phase 2, Randomized, Double-blind, Active-controlled, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Idursulfase-beta (GC1111) in Hunter Syndrome (Mucopolysaccharidosis II) Patients | Mucopolysaccharidosis II | Biological: idursulfase beta;Biological: idursulfase | Green Cross Corporation | Not recruiting | 5 Years | 35 Years | Male | 20 | Phase 2 | ||
| 89 | NCT02998879 | December 2016 | 18 March 2019 | Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated Velmanase Alfa (Recombinant Human Alpha-mannosidase) Treatment in Pediatric Patients Below 6 Years of Age With Alpha-Mannosidosis | Alpha-Mannosidosis | Drug: Velmanase Alfa (e.g. Lamazym) | Chiesi Farmaceutici S.p.A. | Cromsource | Not recruiting | N/A | 6 Years | All | 5 | Phase 2 | Austria;Denmark;France;Germany;Italy |
| 90 | NCT02995993 | November 2016 | 8 January 2018 | Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease | An Open-Label, Multi-Center Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGal in Patients With Fabry Disease | Fabry Disease | Drug: Moss-aGal (recombinant human alpha-galactosidase A produced in moss) | Greenovation Biotech GmbH | FGK Clinical Research GmbH | Not recruiting | 18 Years | 65 Years | All | 6 | Phase 1 | Germany |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 91 | EUCTR2014-002550-39-DE | 20/10/2016 | 20 August 2018 | GZ/SAR402671 in Combination with Cerezyme in Adult Patients with Gaucher Disease Type 3 | A 156-week three-part, open-label, multicenter, multinational study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of GZ/SAR402671 in combination with Cerezyme in adult patients with Gaucher disease type 3 - LEAP | Gaucher disease MedDRA version: 20.0 Level: PT Classification code 10075699 Term: Gaucher's disease type III System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0 Level: PT Classification code 10075697 Term: Gaucher's disease type I System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Code: SAR402671, GZ402671 or GZ/SAR402671 Pharmaceutical Form: Capsule CAS Number: 1401090-53-6 Current Sponsor code: SAR402671A / GZ402671 Other descriptive name: Genz-682452-AU Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 15- Product Code: SAR402671, GZ402671 or GZ/SAR402671 Pharmaceutical Form: Granules for oral suspension CAS Number: 1401090-53-6 Current Sponsor code: SAR402671A / GZ402671 Other descriptive name: Genz-682452-AU Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Genzyme Corporation | Authorised | Female: yes Male: yes | 15 | Phase 2 | United States;Germany;Japan;United Kingdom | |||
| 92 | NCT03123523 | October 18, 2016 | 16 December 2017 | Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes. | Fabry Disease | Diagnostic Test: Echocardiography at T0;Diagnostic Test: Exercise test;Biological: Biological assays;Device: MRI with contrast agent injection;Device: MRI without contrast agent injection;Diagnostic Test: Echocardiography at M24 | University Hospital, Bordeaux | Recruiting | 18 Years | N/A | All | 55 | N/A | France | ||
| 93 | EUCTR2016-001988-36-DK | 05/10/2016 | 30 April 2019 | A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of age | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis | Alfa-mannosidosis MedDRA version: 20.0 Level: LLT Classification code 10032658 Term: Other specified disorders of carbohydrate transport and metabolism System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Velmanase alfa Pharmaceutical Form: Powder for solution for infusion INN or Proposed INN: VELMANASE ALFA CAS Number: 1492823-75-2 Other descriptive name: recombinant human alpha-mannosidase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Chiesi Farmaceutici S.p.A. | Authorised | Female: yes Male: yes | 3 | Phase 2 | Austria;Denmark;Germany | |||
| 94 | NCT03071341 | October 2016 | 1 October 2018 | Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I | An Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181 | Mucopolysaccharidosis I | Drug: AGT-181 | ArmaGen, Inc | Not recruiting | 2 Years | N/A | All | 19 | Phase 1/Phase 2 | Brazil | |
| 95 | EUCTR2015-005761-23-GB | 26/09/2016 | 1 October 2018 | A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patients | A Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes | Niemann-Pick disease type C MedDRA version: 20.0 Level: PT Classification code 10029403 Term: Niemann-Pick disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Trappsol Cyclo Pharmaceutical Form: Solution for infusion INN or Proposed INN: hydroxypropyl-beta-cyclodextrin CAS Number: 128446-35-5 Current Sponsor code: Trappsol Cyclo Other descriptive name: hydroxypropyl-beta-cyclodextrin Concentration unit: % (W/V) percent weight/volume Concentration type: equal Concentration number: 25- | CTD Holdings, Inc. | Authorised | Female: yes Male: yes | 12 | Phase 1;Phase 2 | Italy;United Kingdom;Sweden | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 96 | EUCTR2016-000378-38-GB | 07/09/2016 | 21 August 2017 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: Pegunigalsidase alpha CAS Number: 1333358-30-7 Current Sponsor code: PRX-102 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- Trade Name: Fabrazyme Product Name: Fabrazyme Pharmaceutical Form: Powder for concentrate for solution for infusion INN or Proposed INN: AGALSIDASE BETA CAS Number: 104138-64-9 Current Sponsor code: N/A Other descriptive name: N/A Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 35 - Trade Name: Fabrazyme Product Name: Fabrazyme Pharmaceutical Form: Powder for concentrate for solution for infusion INN or Proposed INN: AGALSIDASE BETA CAS Number: 104138-64-9 Current Sponsor code: N/A Other descriptive name: N/A Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 5 - | Protalix Ltd. | Authorised | Female: yes Male: yes | 78 | Phase 3 | United States;Slovenia;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany | |||
| 97 | EUCTR2015-000753-20-NL | 16/08/2016 | 16 January 2017 | A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion. | A PHASE I/II OPEN LABEL STUDY IN MPS IIIB SUBJECTS TO INVESTIGATE THE SAFETY, BIODISTRIBUTION, PHARMACOKINETICS, AND PHARMACODYNAMICS/EFFICACY OF SBC-103 ADMINISTERED INTRAVENOUSLY | Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B MedDRA version: 19.0 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.0 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) Product Code: SBC-103 Pharmaceutical Form: Solution for infusion INN or Proposed INN: not available CAS Number: 37288-40-7 Current Sponsor code: SBC-103 Other descriptive name: rhNAGLU Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- Product Name: 89 Zirconium Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) (radiolabeled) Product Code: 89Zr-SBC-103 Pharmaceutical Form: Solution for infusion INN or Proposed INN: not available CAS Number: 37288-40-7 Current Sponsor code: SBC-103 radiolabelled Other descriptive name: rhNAGLU radiolabelled Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Alexion Pharmaceuticals, Inc. | Not Recruiting | Female: yes Male: yes | 4 | Phase 2 | Netherlands | |||
| 98 | EUCTR2015-003904-21-ES | 01/08/2016 | 17 September 2018 | Gene transfer clinical trial for Mucopolysaccharidosis IIIA | Phase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA | MPS IIIA is a devastating lysosomal storage disease, caused by a N-sulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: scAAV9.U1A.SGSH Product Code: scAAV9.U1A.SGSH Pharmaceutical Form: Concentrate and solvent for solution for infusion INN or Proposed INN: scAAV9.U1A.SGSH Current Sponsor code: scAAV9.U1A.SGSH Other descriptive name: scAAV9.U1A.SGSH Concentration unit: IU/ml international unit(s)/millilitre Concentration type: equal Concentration number: 2900000000- | Abeona Therapeutics Inc | Authorised | Female: yes Male: yes | 18 | Phase 1;Phase 2 | United States;Spain;Australia | |||
| 99 | JPRN-JMA-IIA00350 | 29/07/2016 | 2 April 2019 | Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type II | Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type II | Patients at the age between 6 months and 15 years with severe type mucopolysaccharidosis type II intravenously administered isursulfase at least for 24 weeks | Intervention type:DRUG. Intervention1:BHP001, Dose form:INJECTION, Route of administration:OTHER. | Torayuki Okuyama | Haruo Shintaku | Not Recruiting | >=6 MONTHS | <15 YEARS | Male | 6 | Phase 1-2 | Japan |
| 100 | NCT02800070 | July 2016 | 1 October 2018 | Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease | Clinical Pilot Study of Autologous Stem Cell Transplantation of Cluster of Differentiation 34 Positive (CD34+) Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease | Fabry Disease | Biological: Lentivirus Alpha-gal A transduced stem cells | University Health Network, Toronto | Ozmosis Research Inc. | Recruiting | 18 Years | 50 Years | Male | 6 | Phase 1 | Canada |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 101 | NCT02574286 | June 29, 2016 | 1 July 2019 | Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease | An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment With Velaglucerase Alfa on Bone-related Pathology in Treatment-naïve Patients With Type 1 Gaucher Disease | Gaucher Disease | Drug: Velaglucerase alfa;Dietary Supplement: Vitamin D | Shire | Not recruiting | 18 Years | 70 Years | All | 19 | Phase 4 | United States;Israel;Spain;United Kingdom | |
| 102 | NCT02612129 | June 14, 2016 | 27 May 2019 | Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C | Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C | Niemann-Pick Disease, Type C | Drug: arimoclomol;Drug: Placebo | Orphazyme | Not recruiting | 2 Years | 18 Years | All | 50 | Phase 2/Phase 3 | United States;Denmark;France;Germany;Italy;Poland;Spain;Switzerland;United Kingdom | |
| 103 | NCT02795676 | June 2016 | 4 November 2019 | Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function | A Randomized, Double Blind, Active Control Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function in Patients With Fabry Disease Previously Treated With Agalsidase Beta | Fabry Disease | Biological: PRX-102 (pegunigalsidase alfa);Biological: agalsidase beta | Protalix | Not recruiting | 18 Years | 60 Years | All | 78 | Phase 3 | United States;Argentina;Australia;Belgium;Brazil;Canada;Czechia;Finland;France;Germany;Hungary;Italy;Netherlands;Norway;Paraguay;Slovenia;Spain;Switzerland;Turkey;United Kingdom;Czech Republic | |
| 104 | EUCTR2015-004438-93-DK | 09/05/2016 | 5 June 2018 | A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C. | Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. | Niemann Pick disease type C MedDRA version: 20.0 Level: PT Classification code 10029403 Term: Niemann-Pick disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Arimoclomol Product Code: _ Pharmaceutical Form: Capsule, hard INN or Proposed INN: Arimoclomol CAS Number: _ Current Sponsor code: OR0003 Other descriptive name: _ Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 25- Pharmaceutical form of the placebo: Capsule, hard Route of administration of the placebo: Oral use Product Name: Arimoclomol Product Code: _ Pharmaceutical Form: Capsule, hard INN or Proposed INN: Arimoclomol CAS Number: _ Current Sponsor code: OR0003 Other descriptive name: _ Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 50- Pharmaceutical form of the placebo: Capsule, hard Route of administration of the placebo: Oral use Product Name: Arimoclomol Product Code: _ Pharmaceutical Form: Capsule, hard INN or Proposed INN: ARIMOCLOMOL Current Sponsor code: OR0003 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | Orphazyme A/S | Authorised | Female: yes Male: yes | 52 | Phase 2;Phase 3 | United States;Spain;Poland;Denmark;Germany;United Kingdom;Italy;Switzerland | |||
| 105 | NCT02843334 | May 2016 | 8 August 2016 | Study of the Prevalence of Fabry Disease in French Dialysis Patients | Study of the Prevalence of Fabry Disease in French Dialysis Patients | Fabry Disease;End Stage Renal Disease;Renal Dialysis | Biological: Dried blood spot (DBS) sampling | Hospices Civils de Lyon | Recruiting | 18 Years | 70 Years | Both | 6000 | N/A | France | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 106 | EUCTR2015-000359-26-ES | 29/04/2016 | 13 June 2016 | First study in patients to assess safety, tolerability and inittial efficacy of the new gene therapy product to treat MPSIIIA. | Phase I/II safety, tolerability and initial efficacy study of adeno-associated viral vector serotype 9 containing human sulfamidase gene after intracerebroventricular administration to patients with MPSIIIA. | Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is an inherited lysosomal storage disease caused by a specific lysosomal enzyme deficiency that leads to intracellular accumulation of the GAG heparan sulphate (HS). It is caused by a deficiency of one of the four enzymes involved in the lysosomal degradation of HS. In the case of subtype A is the heparan N-sulfatase (SGSH).;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana Product Code: AAV9-CAG-coh-SGSH Pharmaceutical Form: Suspension for injection INN or Proposed INN: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana CAS Number: 1352588-20-5 Current Sponsor code: AAV9- CAG-coh-SGSH Other descriptive name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana Concentration unit: Other Concentration type: range Concentration number: 1000000000000-1000000000000000 | Laboratorios del Dr. Esteve, S.A. | Authorised | Female: yes Male: yes | Phase 1;Phase 2 | Spain | ||||
| 107 | EUCTR2014-004804-31-DE | 12/04/2016 | 7 January 2019 | A long-term study on changes in height and weight of children with MPS II receiving Elaprase and who started the treatment before the age of 6 years. | A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients with MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age | Hunter syndrome (Mucopolysaccharidosis II, [MPS II]);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Elaprase Pharmaceutical Form: Concentrate for solution for injection/infusion INN or Proposed INN: IDURSULFASE CAS Number: 50936-59-9 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Shire Human Genetic Therapies, Inc | Authorised | Female: no Male: yes | 20 | Phase 4 | Serbia;United States;Philippines;Saudi Arabia;Malaysia;Costa Rica;Thailand;Oman;Dominican Republic;Germany;Vietnam | |||
| 108 | NCT02754076 | April 2016 | 10 September 2018 | A Treatment Study of Mucopolysaccharidosis Type IIIB | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular BMN 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | MPS III B;Mucopolysaccharidosis Type IIIB | Drug: BMN 250 | BioMarin Pharmaceutical | Recruiting | 1 Year | 10 Years | All | 33 | Phase 1/Phase 2 | United States;Germany;Spain;Taiwan;Turkey;United Kingdom | |
| 109 | EUCTR2015-001985-25-DE | 22/03/2016 | 28 February 2019 | Phase 1/2 Study to Evaluate the Safety and Efficacy of BMN 250 in Patients with MPS IIIB | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB) MedDRA version: 20.0 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: BMN 250 Pharmaceutical Form: Concentrate and solvent for solution for infusion INN or Proposed INN: Not available Current Sponsor code: BMN 250 Other descriptive name: RHNAGLU-IGF2 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 30- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 33 | Phase 1;Phase 2 | Taiwan;Spain;Turkey;Australia;Colombia;Germany;United Kingdom | |||
| 110 | NCT02716246 | March 2016 | 30 September 2019 | Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH | Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA | MPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis III | Biological: ABO-102 | Abeona Therapeutics, Inc | Recruiting | 6 Months | N/A | All | 22 | Phase 1/Phase 2 | United States;Australia;Spain | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 111 | NCT02678689 | February 2016 | 14 October 2019 | A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease | A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease | Jansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 Disorder | Biological: BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1);Device: Intraventricular access device | BioMarin Pharmaceutical | Not recruiting | N/A | 17 Years | All | 14 | Phase 2 | United States;Germany;Italy;United Kingdom | |
| 112 | NCT02156674 | January 26, 2016 | 30 September 2019 | Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome | Study of Administration of Intravenous Naglazyme® Following Allogeneic Transplantation for Maroteaux-Lamy Syndrome | Maroteaux-Lamy Syndrome | Drug: Naglazyme® | Masonic Cancer Center, University of Minnesota | BioMarin Pharmaceutical | Not recruiting | 3 Years | N/A | All | 1 | N/A | United States |
| 113 | EUCTR2015-000891-85-DE | 19/01/2016 | 16 October 2017 | Phase 2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2 | A Phase 2 Open-Label Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 years of age with CLN2 Disease | Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease MedDRA version: 20.0 Level: LLT Classification code 10052074 Term: Neuronal ceroid lipofuscinosis NOS System Organ Class: 100000157084 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Brineura Product Name: cerliponase alfa Product Code: BMN 190 Pharmaceutical Form: Solution for infusion INN or Proposed INN: cerliponase alfa CAS Number: 151662-36-1 Current Sponsor code: BMN 190 Other descriptive name: recombinant human tripeptidyl peptidase-1 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 30- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 10 | Phase 2 | Germany;Italy;United Kingdom | |||
| 114 | NCT04120506 | January 10, 2016 | 22 October 2019 | Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) | Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Adult Patients With Type 1 Gaucher Disease, Previously on a Stable Dose of VPRIV for at Least 3 Months: an Extension of the Investigator-initiated Study | Gaucher Disease, Type 1 | Drug: VPRIV | Shaare Zedek Medical Center | Shire | Not recruiting | 6 Years | 75 Years | All | 15 | Phase 4 | |
| 115 | NCT02030015 | December 22, 2015 | 11 June 2019 | Synergistic Enteral Regimen for Treatment of the Gangliosidoses | Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) | GM1 Gangliosidoses;GM2 Gangliosidoses;Tay-Sachs Disease;Sandhoff Disease | Drug: miglustat;Other: Ketogenic Diet | University of Minnesota - Clinical and Translational Science Institute | Rare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);Lysosomal Disease Network | Recruiting | N/A | 204 Months | All | 30 | Phase 4 | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 116 | EUCTR2015-003031-35-GB | 20/11/2015 | 25 April 2016 | Immune Tolerance Induction with Methotrexate in Hurler Syndrome | A Single Centre Study Investigating the Safety and Efficacy of an Immune Modulation Regimen in Mitigating the Alloimmune Response to Intravenous Laronidase in Infants With Severe Mucopolysaccharidosis type I (Hurler syndrome) Prior to Haematopoietic Stem Cell Transplantation - Immune Tolerance Induction with Methotrexate in Hurler Syndrome | Severe Mucopolysaccharidosis Type I (Hurler syndrome, MPS IH) MedDRA version: 18.1 Level: LLT Classification code 10028094 Term: Mucopolysaccharidosis IH System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Methotrexate Pharmaceutical Form: Oral solution INN or Proposed INN: Methotrexate CAS Number: 59-05-2 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Central Manchester University Hospitals NHS Foundation Trust | Authorised | Female: yes Male: yes | 4 | United Kingdom | ||||
| 117 | NCT02432144 | November 10, 2015 | 28 January 2019 | A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 | A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 | Sly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VII | Drug: UX003 | Ultragenyx Pharmaceutical Inc | Not recruiting | 5 Years | N/A | All | 12 | Phase 3 | United States;Brazil;Mexico;Portugal | |
| 118 | EUCTR2015-001985-25-GB | 06/11/2015 | 30 April 2019 | Phase 1/2 Study to Evaluate the Safety and Efficacy of BMN 250 in Patients with MPS IIIB | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB) MedDRA version: 20.0 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: BMN 250 Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not available Current Sponsor code: BMN 250 Other descriptive name: RHNAGLU-IGF2 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 30- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 33 | Phase 1;Phase 2 | Taiwan;Spain;Turkey;Australia;Germany;Colombia;United Kingdom | |||
| 119 | NCT02597114 | November 2015 | 1 October 2018 | Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 | An Extension Study of AGT-181-102 Evaluating Safety and Glycosaminoglycans (GAGs) in Adult Patients With Hurler-Scheie or Scheie Syndrome Who Have Completed 8-Weeks of Dosing With AGT-181 in Study AGT-181-102 | Mucopolysaccharidosis I | Drug: AGT-181 | ArmaGen, Inc | Not recruiting | 18 Years | N/A | All | 3 | Phase 1 | ||
| 120 | NCT02412787 | October 28, 2015 | 23 April 2019 | Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094 | An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction With Elaprase® in Patients With Hunter Syndrome and Cognitive Impairment | Hunter Syndrome | Drug: Idursulfase-IT;Drug: Elaprase | Shire | Recruiting | N/A | 18 Years | Male | 49 | Phase 2/Phase 3 | United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 121 | NCT02455622 | October 28, 2015 | 13 May 2019 | Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age | A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients With MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age | Hunter Syndrome | Drug: Elaprase for intravenous (IV) infusion | Shire | Not recruiting | N/A | 6 Years | Male | 21 | Phase 4 | United States;Dominican Republic;Germany;Malaysia;Philippines;Serbia;Thailand;Vietnam;Oman;Saudi Arabia | |
| 122 | NCT02536755 | October 28, 2015 | 5 November 2018 | Study of Skeletal Response to Eliglustat in Patients With Gaucher Disease | Open Label Interventional Multicenter Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Successfully Completed the Phase 2 or Phase 3 Studies | Gaucher's Disease | Drug: eliglustat GZ385660 | Genzyme, a Sanofi Company | Recruiting | N/A | N/A | All | 32 | Phase 3 | Canada;Russian Federation | |
| 123 | NCT02618512 | October 15, 2015 | 11 June 2018 | A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis III, Type B (MPS IIIB);Sanfilippo B | Drug: SBC-103 | Alexion Pharmaceuticals | Not recruiting | 5 Years | N/A | All | 3 | Phase 1/Phase 2 | United Kingdom | |
| 124 | EUCTR2015-003105-41-GB | 13/10/2015 | 11 April 2016 | Treatment for Nonsense Mutation Mucopolysaccharidosis Type I | CNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren (COMPASS) - COMPASS | Nonsense mutation Mucopolysaccharidosis Type I MedDRA version: 18.1 Level: PT Classification code 10056886 Term: Mucopolysaccharidosis I System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: ataluren Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ATALUREN CAS Number: 775304-57-9 Current Sponsor code: PTC124 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 125- Product Name: ataluren Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ATALUREN CAS Number: 775304-57-9 Current Sponsor code: PTC124 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 250- Product Name: ataluren Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ATALUREN CAS Number: 775304-57-9 Current Sponsor code: PTC124 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 1000- | PTC Therapeutics Inc. | Authorised | Female: yes Male: yes | Phase 2 | United Kingdom | ||||
| 125 | NCT02534844 | October 2015 | 1 April 2019 | Study of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease | A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease | Niemann-Pick Disease, Type C | Drug: VTS-270;Drug: Sham Procedure Control | Vtesse, Inc., a Mallinckrodt Pharmaceuticals Company | Not recruiting | 4 Years | 21 Years | All | 51 | Phase 2/Phase 3 | United States;Australia;France;Germany;Spain;Turkey;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 126 | NCT03053089 | October 2015 | 1 October 2018 | Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I | A Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) | Mucopolysaccharidosis I | Drug: AGT-181 | ArmaGen, Inc | Not recruiting | 2 Years | N/A | All | 21 | Phase 1/Phase 2 | Brazil | |
| 127 | NCT02536911 | September 2015 | 16 December 2017 | A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate | An Open-label Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild and Moderate Hepatic Impairment, and in Matched Subjects With Normal Hepatic Function | Gaucher Disease | Drug: eliglustat | Genzyme, a Sanofi Company | Not recruiting | 18 Years | 79 Years | All | 24 | Phase 1 | United States | |
| 128 | NCT02536937 | September 2015 | 16 December 2017 | A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate | An Open-label Two-stage Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild, Moderate and Severe Renal Impairment, and in Matched Subjects With Normal Renal Function | Gaucher Disease | Drug: eliglustat | Sanofi | Not recruiting | 18 Years | 79 Years | All | 32 | Phase 1 | United States | |
| 129 | NCT02583672 | September 2015 | 26 August 2019 | Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) | Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications | Gaucher Disease Type 1 | Drug: N-acetylcysteine | University of Minnesota - Clinical and Translational Science Institute | Rare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);National Institute of Neurological Disorders and Stroke (NINDS);Lysosomal Disease Network | Recruiting | 18 Years | N/A | All | 50 | Phase 2 | United States |
| 130 | EUCTR2015-001983-20-GB | 06/08/2015 | 9 January 2017 | A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion. | A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B MedDRA version: 19.0 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.0 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) Product Code: SBC-103 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: not available CAS Number: 1522433-40-4 Current Sponsor code: SBC-103 Other descriptive name: rhNAGLU Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Alexion Pharmaceuticals, Inc | Authorised | Female: yes Male: yes | 5 | Phase 2 | United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 131 | NCT02376751 | August 2015 | 20 June 2016 | An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency | AN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY | Lysosomal Acid Lipase Deficiency | Drug: sebelipase alfa | Alexion Pharmaceuticals | Not recruiting | 8 Months | N/A | Both | N/A | |||
| 132 | NCT02418455 | July 21, 2015 | 15 April 2019 | An Open-Label Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age | An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old | Sly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VII | Drug: UX003 | Ultragenyx Pharmaceutical Inc | Not recruiting | N/A | 5 Years | All | 8 | Phase 2 | United States;Portugal;Spain | |
| 133 | NCT02489344 | July 7, 2015 | 21 January 2019 | Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease | An Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed With Fabry Disease | Fabry Disease | Drug: GZ/SAR402671 | Genzyme, a Sanofi Company | Not recruiting | 18 Years | N/A | Male | 8 | Phase 2 | United States;France;Poland;Russian Federation;United Kingdom | |
| 134 | NCT02371226 | July 2015 | 16 December 2017 | Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I | A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) | Mucopolysaccharidosis I | Drug: AGT-181 (HIRMAb-IDUA) | ArmaGen, Inc | Not recruiting | 18 Years | N/A | All | 3 | Phase 1 | United States | |
| 135 | NCT02520934 | July 2015 | 8 April 2019 | Miglustat on Gaucher Disease Type IIIB | Evaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIB | Gaucher Disease | Drug: Miglustat;Drug: ERT | National Taiwan University Hospital | Actelion | Not recruiting | 6 Years | N/A | All | 19 | N/A | Taiwan |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 136 | NCT02528617 | July 2015 | 12 March 2018 | The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease | The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease | Gaucher Disease Type 1;Gaucher Disease Type 3 | Drug: Velaglucerase alfa | Baylor Research Institute | Texas Scottish Rite Hospital for Children | Not recruiting | 4 Years | 14 Years | All | 0 | Phase 4 | United States |
| 137 | NCT02437253 | May 2015 | 16 December 2017 | Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI | Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI | Mucopolysaccharidosis Type I;Mucopolysaccharidosis Type II;Mucopolysaccharidosis Type VI | Drug: Adalimumab;Other: Placebo | Los Angeles Biomedical Research Institute | Not recruiting | 5 Years | N/A | All | 2 | Phase 1/Phase 2 | United States | |
| 138 | NCT02350816 | April 8, 2015 | 14 October 2019 | An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093. | An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA Disease | Sanfilippo Syndrome;Mucopolysaccharidosis (MPS) | Drug: HGT-1410 | Shire | Not recruiting | 12 Months | 48 Months | All | 17 | Phase 2 | United States;France;Germany;Italy;Netherlands;Spain;United Kingdom | |
| 139 | NCT02262338 | April 2015 | 1 October 2018 | Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome | A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients With Mucopolysaccharidosis II (MPS II, Hunter Syndrome) | Mucopolysaccharidosis II | Drug: AGT-182 | ArmaGen, Inc | Not recruiting | 18 Years | N/A | Male | 6 | Phase 1 | United States;Germany;Philippines;Netherlands | |
| 140 | NCT02422654 | April 2015 | 8 June 2015 | Taste Evaluation of Different Liquid Formulations With Eliglustat | A Single-blind, Randomized, Unbalanced Crossover Design With 5 Vehicles, 5 Periods, and 5 Sequences, Repeated-doses (With no Ingestion) Study to Assess the Palatability of Eliglustat Prototype Liquid Formulations in Healthy Subjects | Gaucher Disease | Drug: eliglustat | Genzyme, a Sanofi Company | Not recruiting | 18 Years | 55 Years | Both | 8 | Phase 1 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 141 | EUCTR2014-003480-37-GB | 10/03/2015 | 30 April 2019 | An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | Late-Infantile Neuronal Ceroid Lipofuscinosis type 2 (CLN2). MedDRA version: 20.1 Level: LLT Classification code 10052074 Term: Neuronal ceroid lipofuscinosis NOS System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Brineura Product Code: BMN 190 Pharmaceutical Form: Solution for infusion INN or Proposed INN: cerliponase alfa CAS Number: 151662-36-1 Current Sponsor code: BMN 190 Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 30- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 23 | Phase 2 | United States;Germany;Italy;United Kingdom | |||
| 142 | NCT02930655 | February 1, 2015 | 16 July 2018 | A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease | A Single-center, Open-label, Randomized, Versus a Control Group, Phase 1b Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Oral Lucerastat in Adult Subjects With Fabry Disease Receiving Enzyme Replacement Therapy | Fabry Disease | Drug: Lucerastat;Drug: Enzyme replacement therapy (ERT) | Idorsia Pharmaceuticals Ltd. | Not recruiting | 18 Years | N/A | All | 14 | Phase 1 | Germany | |
| 143 | NCT02478840 | February 2015 | 16 December 2017 | Evaluation of Long-term Efficacy of Treatment With Lamazym | A Single Center, Open Label Clinical Trial Investigating the Long-term Efficacy of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) Treatment in Subjects With Alpha-Mannosidosis Who Previously Participated in Lamazym Trials | Alpha-Mannosidosis | Drug: Lamazym | Zymenex A/S | Not recruiting | N/A | N/A | All | 18 | Phase 3 | Denmark | |
| 144 | NCT02485899 | February 2015 | 14 October 2019 | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease | Jansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 Disorder | Biological: BMN 190;Device: Intraventricular Access Device | BioMarin Pharmaceutical | Not recruiting | 3 Years | 16 Years | All | 23 | Phase 1/Phase 2 | United States;Germany;Italy;United Kingdom | |
| 145 | EUCTR2014-002596-28-GB | 28/01/2015 | 11 June 2018 | Treatment for Nonsense Mutation Mucopolysaccharidosis Type I | A Phase 2 Study of Ataluren (PTC124) as Treatment for Nonsense Mutation Mucopolysaccharidosis Type I | Nonsense mutation Mucopolysaccharidosis Type I MedDRA version: 20.1 Level: PT Classification code 10056886 Term: Mucopolysaccharidosis I System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: ataluren Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ATALUREN CAS Number: 775304-57-9 Current Sponsor code: PTC124 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 125, 250 or 1000- Product Name: ataluren Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ATALUREN CAS Number: 775304-57-9 Current Sponsor code: PTC124 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 125, 250 or 1000- Product Name: ataluren Product Code: PTC124 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: ATALUREN CAS Number: 775304-57-9 Current Sponsor code: PTC124 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 125, 250 or 1000- | PTC Therapeutics Inc. | Authorised | Female: yes Male: yes | 18 | Phase 2 | Germany;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 146 | EUCTR2014-003950-15-DK | 22/01/2015 | 17 August 2015 | Medical research trial for testing drug treatment of alpha-Mannosidosis | A single center, open label clinical trial investigating the long-term efficacy of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) treatment in subjects with alpha-Mannosidosis who previously participated in Lamazym trials | alpha-Mannosidosis MedDRA version: 17.1 Level: LLT Classification code 10032658 Term: Other specified disorders of carbohydrate transport and metabolism System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lamazym Product Code: rhLAMAN Pharmaceutical Form: Powder for solution for infusion INN or Proposed INN: recombinant human lysosomal alpha-mannosidase Other descriptive name: LAMAZYM Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Zymenex A/S | Not Recruiting | Female: yes Male: yes | Denmark | |||||
| 147 | NCT02230566 | November 2014 | 16 December 2017 | A Phase 3 Study of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 | A Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 | MPS 7;Sly Syndrome;Mucopolysaccharidosis;MPS VII | Drug: UX003;Other: Placebo | Ultragenyx Pharmaceutical Inc | Not recruiting | 5 Years | 35 Years | All | 12 | Phase 3 | United States | |
| 148 | NCT02533076 | November 2014 | 31 August 2015 | The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients | The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients | Cystinosis | Other: Challenge agent: capsaicin;Other: Challenge agent: placebo;Device: Mechanical stimulation with Von Frey filaments;Device: Temperature sensitivity measurement with Advanced Thermal Stimulation | Universitaire Ziekenhuizen Leuven | Not recruiting | 8 Years | N/A | Both | 50 | Phase 0 | Belgium | |
| 149 | EUCTR2013-005324-41-GB | 07/10/2014 | 3 April 2017 | Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients with Fabry Disease | A Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed with Fabry Disease | Fabry disease MedDRA version: 17.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Code: GZ402671 / SAR402671 Pharmaceutical Form: Capsule CAS Number: 1401090-53-6 Current Sponsor code: SAR402671 / GZ402671 Other descriptive name: Genz-682452-AA Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 4- Product Code: GZ402671 / SAR402671 Pharmaceutical Form: Capsule CAS Number: 1401090-53-6 Current Sponsor code: SAR402671 (GZ402671) Other descriptive name: Genz-682452-AA Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 15- | Genzyme Corporation | Not Recruiting | Female: no Male: yes | 8 | Phase 2 | France;United States;Czech Republic;Poland;Russian Federation;United Kingdom | |||
| 150 | NCT02194985 | October 2014 | 15 July 2019 | Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease | An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease | Fabry Disease | Drug: migalastat HCl 150 mg | Amicus Therapeutics | Not recruiting | 18 Years | N/A | All | 76 | Phase 3 | United States;Argentina;Australia;Austria;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Japan;Spain;Turkey;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 151 | NCT02254863 | September 2014 | 17 June 2019 | UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells | Adrenoleukodystrophy;Batten Disease;Mucopolysaccharidosis II;Leukodystrophy, Globoid Cell;Leukodystrophy, Metachromatic;Neimann Pick Disease;Pelizaeus-Merzbacher Disease;Sandhoff Disease;Tay-Sachs Disease;Brain Diseases, Metabolic, Inborn;Alpha-Mannosidosis;Sanfilippo Mucopolysaccharidoses | Biological: DUOC-01 | Joanne Kurtzberg, MD | The Marcus Foundation | Recruiting | N/A | 22 Years | All | 12 | Phase 1 | United States |
| 152 | NCT02294877 | September 2014 | 27 August 2018 | A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) | A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) | Mucopolysaccharidosis IV Type A;Morquio A Syndrome;MPS IVA | Drug: Vimizim® (elosulfase alfa) | BioMarin Pharmaceutical | ICON plc | Recruiting | N/A | N/A | All | 583 | N/A | United States;Australia;Austria;Belgium;Canada;Czechia;Denmark;France;Germany;Ireland;Italy;Malaysia;Netherlands;Poland;Portugal;Puerto Rico;Taiwan;United Kingdom |
| 153 | NCT02023086 | August 2014 | 16 December 2017 | Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients | Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Relation With Visual Field Loss in Fabry Patients | Fabry Disease | Procedure: Contrast sensitivity measurement;Procedure: Slit Lamp assessment and intra-ocular pressure measurement;Procedure: Visual field testing;Procedure: Oxygen flow at the optic nerve head measurement;Drug: Tropicamide;Device: OSOME | Université de Montréal | Genzyme, a Sanofi Company | Not recruiting | 18 Years | N/A | All | 8 | N/A | Canada |
| 154 | EUCTR2013-003228-35-ES | 16/07/2014 | 31 August 2015 | Study of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patients | Study of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patients - Viscou solution cysteamina | Cystinosis MedDRA version: 16.1 Level: PT Classification code 10011777 Term: Cystinosis System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: cysteamine (mercaptamine) viscous solution Pharmaceutical Form: Eye drops, solution INN or Proposed INN: Mercaptamine CAS Number: 156-57-0 Other descriptive name: MERCAPTAMINE HYDROCHLORIDE Concentration unit: % percent Concentration type: equal Concentration number: 0.55- | Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca (VHIR) | Not Recruiting | Female: yes Male: yes | Spain | |||||
| 155 | EUCTR2013-003400-39-GB | 15/07/2014 | 9 January 2017 | A Phase 1/2 open label study in MPS IIIB subjects to investigate the long-term safety and effect of SBC-103 given by IV infusion. | A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B MedDRA version: 19.0 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.0 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) Product Code: SBC-103 Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: not available CAS Number: 1522433-40-4 Current Sponsor code: SBC-103 Other descriptive name: rhNAGLU Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Alexion Pharmaceuticals, Inc. | Authorised | Female: yes Male: yes | 9 | Phase 1;Phase 2 | United States;Spain;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 156 | NCT02171104 | July 10, 2014 | 7 October 2019 | MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis | MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG | Mucopolysaccharidosis Disorders;Hurler Syndrome;Hunter Syndrome;Maroteaux Lamy Syndrome;Sly Syndrome;Alpha-Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Glycoprotein Metabolic Disorders;Sphingolipidoses;Recessive Leukodystrophies;Globoid Cell Leukodystrophy;Metachromatic Leukodystrophy;Niemann-Pick B;Niemann-Pick C Subtype 2;Sphingomyelin Deficiency;Peroxisomal Disorders;Adrenoleukodystrophy With Cerebral Involvement;Zellweger Syndrome;Neonatal Adrenoleukodystrophy;Infantile Refsum Disease;Acyl-CoA Oxidase Deficiency;D-Bifunctional Enzyme Deficiency;Multifunctional Enzyme Deficiency;Alpha-methylacyl-CoA Racmase Deficiency;Mitochondrial Neurogastrointestingal Encephalopathy;Severe Osteopetrosis;Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation);Inherited Metabolic Disorders | Biological: Stem Cell Transplantation;Drug: IMD Preparative Regimen;Drug: Osteopetrosis Only Preparative Regimen;Drug: Osteopetrosis Haploidentical Only Preparative Regimen;Drug: cALD SR-A (Standard-Risk, Regimen A);Drug: cALD SR-B (Standard-Risk, Regimen B);Drug: cALD HR-D (High-Risk, Regimen C);Drug: cALD HR-D (High-Risk, Regimen D) | Masonic Cancer Center, University of Minnesota | Recruiting | N/A | 55 Years | All | 100 | Phase 2 | United States | |
| 157 | NCT02112994 | June 24, 2014 | 4 February 2019 | Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency | A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency | Drug: Sebelipase Alfa | Alexion Pharmaceuticals | Not recruiting | 8 Months | N/A | All | 31 | Phase 2 | United States;Australia;Belgium;Brazil;Canada;Croatia;Denmark;Germany;Italy;Mexico;Netherlands;Russian Federation;Spain;Turkey;United Kingdom | |
| 158 | EUCTR2013-001479-18-GB | 09/06/2014 | 28 February 2019 | High Dose Genistein in Sanfilippo Syndrome | A Phase III, Double Blinded, Randomised, Placebo Controlled Clinical Trial of High Dose Oral Genistein Aglycone in Patients with Sanfilippo Syndrome (Mucopolysaccharidosis III) - High Dose Genistein in Sanfilippo Syndrome | Sanfilippo syndrome (Mucopolysaccharidosis III) MedDRA version: 20.0 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Genistein aglycone Product Code: 500 0500 0 Pharmaceutical Form: Oral powder INN or Proposed INN: Genistein aglycone CAS Number: 446-72-0 Other descriptive name: GENISTEIN Concentration unit: % percent Concentration type: not less then Concentration number: 98- | Manchester University NHS Foundation Trust | Not Recruiting | Female: yes Male: yes | 24 | Phase 3 | United Kingdom | |||
| 159 | NCT02193867 | June 2014 | 16 December 2017 | Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency | A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency | Drug: sebelipase alfa | Alexion Pharmaceuticals | Not recruiting | N/A | 8 Months | All | 10 | Phase 2 | United States;Italy;United Kingdom | |
| 160 | EUCTR2014-000350-11-DE | 28/05/2014 | 16 November 2015 | Treatment of patients, who have Mucopolysaccharidosis Type I, receiving pentosan polysulfate subcutaneous injections weekly | An open label, randomized study to investigate the safety of weekly pentosan polysulfate injections in adult patients with Mucopolysaccharidosis Type I receiving enzyme replacement therapy. | Mucopolysaccharidosis type I (alpha-L-Iduronidase deficiency) MedDRA version: 17.0 Level: LLT Classification code 10056888 Term: Mucopolysaccharidosis IS System Organ Class: 100000004850 MedDRA version: 17.0 Level: LLT Classification code 10056887 Term: Mucopolysaccharidosis IH/S System Organ Class: 100000004850 MedDRA version: 17.0 Level: LLT Classification code 10028094 Term: Mucopolysaccharidosis IH System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Pentosan Polysulfat SP 54® injection solution Product Name: Pentosan Polysulphate SP54® Pharmaceutical Form: Solution for injection INN or Proposed INN: PENTOSAN POLYSULFATE SODIUM CAS Number: 37319-17-8 Other descriptive name: Pentosan Polysulphate SP54 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | Multiplex Pharma Holdings LLC | Not Recruiting | Female: yes Male: yes | 6 | Germany | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 161 | EUCTR2014-000533-22-GB | 28/05/2014 | 28 February 2019 | Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). | A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 18.1 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 Pharmaceutical Form: Concentrate for solution for injection/infusion INN or Proposed INN: sebelipase alfa CAS Number: 1276027-63-4 Current Sponsor code: SBC-102 Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Alexion Pharmaceuticals Inc | Not Recruiting | Female: yes Male: yes | 10 | Phase 2 | United States;Finland;Italy;United Kingdom | |||
| 162 | NCT02232477 | May 2014 | 22 October 2019 | Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I | An Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I | Mucopolysaccharidosis I;Cognitive Decline | Drug: Intrathecal recombinant human alpha iduronidase | agnes chen | University of Minnesota - Clinical and Translational Science Institute;UCSF Benioff Children’s Hospital Oakland;University of California, Los Angeles;The Ryan Foundation;Rare Diseases Clinical Research Network;National Institute of Neurological Disorders and Stroke (NINDS) | Recruiting | 6 Years | N/A | All | 16 | N/A | United States |
| 163 | NCT02124083 | April 25, 2014 | 16 December 2017 | Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 | Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 | Neimann-Pick Disease | Drug: Vorinostat | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Washington University School of Medicine;Weill Medical College of Cornell University | Not recruiting | 18 Years | 60 Years | All | 12 | Phase 1/Phase 2 | United States |
| 164 | EUCTR2013-003450-24-DE | 09/04/2014 | 5 December 2016 | Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type A | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 17.1 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 17.1 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 Pharmaceutical Form: Solution for injection INN or Proposed INN: Not available Current Sponsor code: HGT-1410 Other descriptive name: Recombinant human heparan N-sulfatase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 15- | Shire Human Genetic Therapies, Inc | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom | |||
| 165 | NCT02107846 | April 2014 | 10 October 2016 | An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 | A Phase 2a, Open-Label, Sequential Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 (Plant Recombinant Human Glucocerebrosidase) in Enzyme Replacement Therapy-Naïve Subjects With Gaucher Disease | Gaucher Disease | Drug: PRX-112 | Protalix | Not recruiting | 18 Years | N/A | Both | 10 | Phase 2 | Israel | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 166 | NCT02124070 | March 26, 2014 | 16 December 2017 | Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis | Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis | Cystinosis;Myopathy | Drug: rh Growth Hormone | National Human Genome Research Institute (NHGRI) | Not recruiting | 18 Years | 70 Years | All | 0 | Phase 1/Phase 2 | United States | |
| 167 | NCT02082327 | March 2014 | 19 February 2015 | A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers | A Phase 1, Randomized, Double-Blind, Placebo-Controlled, Single Dose Escalation Trial to Evaluate the Safety, Tolerability and Pharmacokinetics of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers With an Open-Label, Randomized, Two-Way Crossover Arm | Fabry Disease | Drug: IV migalastat HCl;Drug: IV placebo;Drug: oral migalastat HCl | Amicus Therapeutics | Not recruiting | 18 Years | 45 Years | Both | 31 | Phase 1 | Netherlands | |
| 168 | NCT02084121 | February 2014 | 30 September 2019 | Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use) | Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use) | Metachromatic Leukodystrophy | Biological: Enriched Hematopoetic Stem Cell Infusion | University of Louisville | Duke University | Not recruiting | 3 Years | N/A | Male | Phase 4 | United States | |
| 169 | NCT01917708 | January 2014 | 19 November 2018 | BMT Abatacept for Non-Malignant Diseases | Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases | Hurler Syndrome;Fanconi Anemia;Glanzmann Thrombasthenia;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Severe Congenital Neutropenia;Leukocyte Adhesion Deficiency;Shwachman-Diamond Syndrome;Diamond-Blackfan Anemia;Dyskeratosis-congenita;Chediak-Higashi Syndrome;Severe Aplastic Anemia;Thalassemia Major;Hemophagocytic Lymphohistiocytosis;Sickle Cell Disease | Drug: Abatacept | Emory University | Not recruiting | N/A | 21 Years | All | 10 | Phase 1 | United States | |
| 170 | NCT01981720 | December 2013 | 1 April 2019 | Extension Study of PRX-102 for up to 60 Months | A Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for up to 60 Months to Adult Fabry Patients | Fabry Disease | Biological: PRX-102 (pegunigalsidase alfa) | Protalix | Not recruiting | 18 Years | N/A | All | 15 | Phase 1/Phase 2 | United States;Paraguay;Spain;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 171 | NCT02841358 | December 2013 | 16 December 2017 | Screening of Niemann-Pick Disease, Type C in a Psychiatric Population | Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population | Psychiatric Adults Patients | Biological: Blood sampling;Biological: Biopsy | University Hospital, Grenoble | Not recruiting | 18 Years | N/A | All | 22 | N/A | France | |
| 172 | EUCTR2013-002885-38-GB | 22/10/2013 | 5 June 2017 | Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairment | A Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and Early Cognitive Impairment. | Long-term treatment of Hunter syndrome and cognitive impairment MedDRA version: 20.0 Level: PT Classification code 10056889 Term: Mucopolysaccharidosis II System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Idursulfase-IT Product Code: HGT-2310 Pharmaceutical Form: Solution for injection INN or Proposed INN: IDURSULFASE CAS Number: 50936-59-9 Current Sponsor code: HGT-2310 Other descriptive name: idursulfase-IT Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 10- | Shire HGT Inc | Authorised | Female: no Male: yes | 54 | Phase 2;Phase 3 | France;United States;Mexico;Canada;Argentina;Spain;Australia;Germany;Colombia;United Kingdom | |||
| 173 | EUCTR2012-003775-20-DE | 11/09/2013 | 23 July 2018 | A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injection | An Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy | Treatment of Metachromatic Leukodystrophy MedDRA version: 20.0 Level: PT Classification code 10067609 Term: Metachromatic leukodystrophy System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Code: SHP611 Pharmaceutical Form: Solution for injection INN or Proposed INN: Not available Current Sponsor code: SHP611 Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 30- | Shire Human Genetics Therapies Inc | Authorised | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom | |||
| 174 | NCT02021266 | September 1, 2013 | 30 September 2019 | Single Patient Expanded Access Protocol: Metabolic Boost | Single Patient Expanded Access Protocol: Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders | Metachromatic Leukodystrophy | Biological: Enriched Hematopoetic Stem Cell Infusion | University of Louisville | Duke University | Not recruiting | N/A | N/A | Female | Phase 1 | United States | |
| 175 | NCT01907087 | September 2013 | 18 March 2019 | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease | Jansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease | Biological: BMN 190 | BioMarin Pharmaceutical | Not recruiting | 3 Years | 15 Years | All | 24 | Phase 1/Phase 2 | United States;Germany;Italy;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 176 | NCT03300453 | September 2013 | 22 October 2018 | Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome | Protocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B Syndrome | Sanfilippo Syndrome B | Drug: rAAV2/5-hNAGLU | UniQure Biopharma B.V. | Venn Life Sciences;Institut Pasteur | Not recruiting | 18 Months | 60 Months | All | 4 | Phase 1/Phase 2 | France |
| 177 | EUCTR2012-005430-11-GB | 15/08/2013 | 21 August 2017 | Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2 | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease | Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2). MedDRA version: 18.0 Level: LLT Classification code 10052074 Term: Neuronal ceroid lipofuscinosis NOS System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: N/A Product Code: BMN 190 Pharmaceutical Form: Solution for infusion INN or Proposed INN: cerliponase alfa CAS Number: 151662-36-1 Current Sponsor code: BMN 190 Other descriptive name: recombinant human tripeptidyl peptidase-1 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 30- | BioMarin Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 24 | Phase 1;Phase 2 | United States;Germany;United Kingdom | |||
| 178 | NCT01908712 | August 2013 | 18 March 2019 | Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients | A Multi-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym Trials | Alpha-Mannosidosis | Drug: Lamazym | Chiesi Farmaceutici S.p.A. | Not recruiting | N/A | N/A | All | 7 | Phase 3 | France | |
| 179 | NCT01966029 | July 2013 | 7 October 2019 | BMN 110 Phase 3B in Australian Patients | A Multicenter Open-Label, Phase 3B Study to Evaluate the Efficacy and Safety of BMN 110 in Australian Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis IVA (Morquio A Syndrome) | Drug: BMN 110 | BioMarin Pharmaceutical | Not recruiting | N/A | N/A | All | 13 | Phase 3 | Australia | |
| 180 | JPRN-UMIN000009758 | 2013/06/24 | 2 April 2019 | Development of treosulfan-based conditioning regimen for congenital metabolic diseases; Phase I study | Mucopolysaccharidosis type I (Herler syndrome), type II (Hunter syndrome) | Treosulfan 14 g/m2, intravenous, day -6 -5 -4 | Tokai University School of Medicine | 1. School of Human Health Science Faculty of Medicine Kyoto University 2. Department of Pediatrics, Japanese Red cross Nagoya Daiichi Hospital 3. Department of Pediatrics, Nihon University | Not Recruiting | Not applicable | Not applicable | Male and Female | 12 | Phase 1 | Japan | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 181 | EUCTR2013-000321-31-DK | 07/06/2013 | 15 January 2018 | A long-term safety trial of repeated Velmanase Alfa treatment of subjects with Alpha-Mannosidosis | A multi-center, un-controlled, open-labeled trial of the long-term safety of Velmanase Alfa aftercare treatment of subjects with alpha-Mannosidosis whom previously participated in Velmanase Alfa - trials - Phase IIIb | Treatement of Alpha-Mannosidosis MedDRA version: 20.0 Level: LLT Classification code 10032658 Term: Other specified disorders of carbohydrate transport and metabolism System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Velmanase Alfa Product Code: rhLAMAN Pharmaceutical Form: Powder for solution for infusion INN or Proposed INN: velmanase alfa CAS Number: 1492823-75-2 Current Sponsor code: rhLAMAN Other descriptive name: recombinant human alpha-mannosidase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Chiesi Farmaceutici S.p.A. | Authorised | Female: yes Male: yes | 8 | Phase 3 | Denmark | |||
| 182 | NCT01908725 | June 2013 | 28 January 2019 | Lamazym Aftercare Study | A Single-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym Trials | Alpha-Mannosidosis | Drug: Lamazym | Chiesi Farmaceutici S.p.A. | Not recruiting | N/A | N/A | All | 5 | Phase 3 | Denmark | |
| 183 | EUCTR2011-002750-31-DE | 29/05/2013 | 21 August 2017 | A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiency | A multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) | Lysosomal Acid Lipase Deficiency MedDRA version: 20.0 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 100000004915 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Kanuma Product Name: sebelipase alfa Product Code: SBC-102 Pharmaceutical Form: Solution for infusion INN or Proposed INN: NA CAS Number: 1276027-63-4 Current Sponsor code: SBC-102 Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- Pharmaceutical form of the placebo: Solution for infusion Route of administration of the placebo: Intravenous use | Alexion Pharmaceuticals, Inc. | Not Recruiting | Female: yes Male: yes | 55 | Phase 3 | United States;Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Germany;Japan;Sweden | |||
| 184 | NCT01887938 | May 23, 2013 | 24 June 2019 | An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy | An Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients With Metachromatic Leukodystrophy | Metachromatic Leukodystrophy (MLD) | Biological: HGT-1110 | Shire | Not recruiting | N/A | 13 Years | All | 24 | Phase 1/Phase 2 | Australia;Brazil;Czechia;Denmark;France;Germany;Japan;Argentina;Czech Republic | |
| 185 | NCT01586455 | April 2013 | 8 January 2018 | Human Placental-Derived Stem Cell Transplantation | A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders | Mucopolysaccharidosis I;Mucopolysaccharidosis VI;Adrenoleukodystrophy;Niemann-Pick Disease;Metachromatic Leukodystrophy;Wolman Disease;Krabbe's Disease;Gaucher's Disease;Fucosidosis;Batten Disease;Severe Aplastic Anemia;Diamond-Blackfan Anemia;Amegakaryocytic Thrombocytopenia;Myelodysplastic Syndrome;Acute Myelogenous Leukemia;Acute Lymphocytic Leukemia | Drug: Human Placental Derived Stem Cell | New York Medical College | Not recruiting | N/A | 55 Years | All | 43 | Phase 1 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 186 | NCT01747980 | March 2013 | 19 February 2015 | Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients | An Exploratory, Open-label Study to Evaluate the Safety of PRX-112 and Pharmacokinetics of Oral prGCD (Plant Recombinant Human Glucocerebrosidase) in Gaucher Patients | Gaucher Disease | Drug: PRX-112 | Protalix | Not recruiting | 18 Years | N/A | Both | 16 | Phase 1 | Israel | |
| 187 | NCT01769001 | March 2013 | 22 January 2018 | An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry Patients | An Extension of Open Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks to Adult Fabry Patients | Fabry Disease | Drug: PRX-102 | Protalix | Not recruiting | 18 Years | N/A | All | 18 | Phase 1/Phase 2 | United States;Australia;Paraguay;Spain;United Kingdom | |
| 188 | NCT01842841 | March 2013 | 19 October 2017 | Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease | A Multicenter, Open-label Extension Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease | Gaucher Disease | Drug: velaglucerase alfa | Shire | Quintiles, Inc. | Not recruiting | 2 Years | N/A | All | 5 | Phase 3 | Japan |
| 189 | NCT01733316 | January 13, 2013 | 16 December 2017 | Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis | A Long-Term, Open-Label, Safety, Tolerability and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients With Cystinosis | Cystinosis | Drug: RP103;Drug: Cystagon® | Horizon Pharma USA, Inc. | Not recruiting | 12 Years | N/A | All | 41 | Phase 3 | United States;Belgium;France;Italy;Netherlands;United Kingdom | |
| 190 | EUCTR2009-012564-13-FR | 03/01/2013 | 23 December 2013 | Cysteamine Hydrochloride for nephrOpathic Cystinosis, open-label Phase III pivotal study | Cysteamine Hydrochloride for nephropathic Cystinosis, open-label Phase III pivotal study - CYSTADROPS CHOC study | Nephropatic cystinosis patients with cystine corneal deposits MedDRA version: 16.0 Level: LLT Classification code 10071112 Term: Nephropathic cystinosis System Organ Class: 100000004850 ;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: CYSTADROPS 0.55% eye drops, solution Pharmaceutical Form: Eye drops, solution INN or Proposed INN: CYSTEAMINE HYDROCHLORIDE CAS Number: 156-57-0 Other descriptive name: Mercaptamine hydrochloride Concentration unit: % (W/W) percent weight/weight Concentration type: equal Concentration number: 0.55- | Orphan Europe SARL | Not Recruiting | Female: yes Male: yes | Phase 3 | France | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 191 | NCT01747135 | January 2013 | 4 November 2019 | Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease | Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease | Niemann-Pick Disease, Type C1 | Drug: VTS-270 | Vtesse, Inc., a Mallinckrodt Pharmaceuticals Company | Not recruiting | 2 Years | 25 Years | All | 14 | Phase 1 | United States | |
| 192 | NCT01757184 | January 2013 | 16 December 2017 | A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) | A Multicenter, Randomized, Placebo-Controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency | Cholesterol Ester Storage Disease (CESD);Lysosomal Acid Lipase Deficiency | Drug: SBC-102 [sebelipase alfa] (1 mg/kg);Drug: Placebo | Alexion Pharmaceuticals | Not recruiting | 4 Years | N/A | All | 66 | Phase 3 | United States;Argentina;Australia;Brazil;Canada;Croatia;Czech Republic;France;Germany;Greece;Israel;Italy;Japan;Mexico;Poland;Russian Federation;Spain;Turkey;United Kingdom | |
| 193 | NCT01744782 | December 19, 2012 | 16 December 2017 | Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis | An Open-Label, Safety and Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naïve Patients With Cystinosis | Cystinosis | Drug: RP103 Q12H | Horizon Pharma USA, Inc. | Not recruiting | N/A | 6 Years | All | 17 | Phase 3 | United States;Brazil | |
| 194 | EUCTR2012-000979-17-DE | 17/12/2012 | 23 November 2015 | A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-Mannosidosis | A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III | Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lamazym Product Code: rhLAMAN Pharmaceutical Form: Powder for solution for infusion INN or Proposed INN: rhLAMAN Current Sponsor code: rhLAMAN Other descriptive name: recombinant human alpha-mannosidase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 10- Pharmaceutical form of the placebo: Powder for solution for infusion Route of administration of the placebo: Intravenous use | Zymenex A/S | Not Recruiting | Female: yes Male: yes | 20 | Phase 3 | Spain;Belgium;Denmark;Germany;Sweden | |||
| 195 | NCT01463215 | December 2012 | 19 February 2015 | Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease | An Open-Label, Dose Escalation With 2 Dose Levels, Proof-of-Concept Clinical Trial of Ambroxol for the Treatment of Type I Gaucher Disease | Type I Gaucher Disease | Drug: Ambroxol | Exsar Corporation | Not recruiting | 16 Years | N/A | Both | 20 | Phase 1/Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 196 | EUCTR2011-004410-42-FR | 26/11/2012 | 19 May 2014 | Intracerebral Gene Therapy for MLD | A phase I/II, open labeled, monocentric study of direct intracranial administration of a replication deficient adeno-associated virus gene transfer vector serotype rh.10 expressing the human ARSA cDNA to children with metachromatic leukodystrophy - Intracerebral Gene Therapy for MLD | Early onset forms of MLD MedDRA version: 14.1 Level: SOC Classification code 10029205 Term: Nervous system disorders System Organ Class: 10029205 - Nervous system disorders MedDRA version: 14.1 Level: PT Classification code 10067609 Term: Metachromatic leukodystrophy System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 14.1 Level: SOC Classification code 10027433 Term: Metabolism and nutrition disorders System Organ Class: 10027433 - Metabolism and nutrition disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: AAVrh.10cuARSA Product Code: Non applicable Pharmaceutical Form: Solution for injection | Inserm | Authorised | Female: yes Male: yes | Phase 1/2 | France | ||||
| 197 | JPRN-UMIN000009392 | 2012/11/24 | 2 April 2019 | An Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol | Neuronopathic Gaucher disease | Ambroxol at a dose level of 25 mg/kg/day (upper limit: 1g/day) will be given by mouth for 6 months. | Tottori University, Faculty of Medicine, Institute of Neurological Science | Recruiting | Not applicable | Not applicable | Male and Female | 5 | Phase 2,3 | Japan | ||
| 198 | NCT01653444 | November 2012 | 4 July 2016 | Evaluate the Safety and Exploratory Efficacy of GC1119 | Multicenter and Dose Escalation Phase 1 Study to Evaluate the Safety and Exploratory Efficacy of GC1119(Recombinant Human a-galactosidase A) for Enzyme Replacement Therapy in Fabry Disease Patients | Fabry Disease | Drug: GC1119 | Green Cross Corporation | Not recruiting | 16 Years | N/A | Male | 8 | Phase 1 | Korea, Republic of | |
| 199 | NCT01951989 | November 2012 | 19 February 2015 | Intra-monocyte Imiglucerase Kinetics in Gaucher Disease | Study of Intra-monocytic Imiglucerase Kinetic and Its Correlation With Clinical and Biological Gaucher Disease | Gaucher Disease | Drug: Imiglucérase (drug) pharmacokinetics | University Hospital, Clermont-Ferrand | Recruiting | 12 Years | N/A | Both | 60 | Phase 2 | France | |
| 200 | EUCTR2012-001966-14-ES | 25/10/2012 | 3 December 2012 | A study to assess the renal function in young male patients with Fabry disease who have never received any specific treatment for this disease. | A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease - FABRY-MAP | Fabry disease MedDRA version: 15.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Iohexol Product Name: OMNIPAQUE Product Code: Not applicable Pharmaceutical Form: Solution for injection INN or Proposed INN: iohexol Current Sponsor code: Not applicable Other descriptive name: iohexol Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 300- | Genzyme, a Sanofi Company | Authorised | Female: no Male: yes | 45 | United States;Canada;Spain;Norway;Netherlands;United Kingdom | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 201 | NCT01678898 | October 2012 | 2 May 2016 | Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients | A Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Weeks to Adult Fabry Patients | Fabry Disease | Drug: PRX-102 | Protalix | Not recruiting | 18 Years | N/A | Both | 18 | Phase 1/Phase 2 | United States;Australia;Paraguay;Serbia;Spain;United Kingdom | |
| 202 | NCT01685216 | September 2012 | 19 October 2017 | Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease | A Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher Disease | Gaucher Disease, Type 3 | Biological: velaglucerase alfa | Shire | Not recruiting | 2 Years | 17 Years | All | 7 | Phase 1/Phase 2 | Egypt;India;Tunisia | |
| 203 | EUCTR2011-004355-40-DE | 23/07/2012 | 2 February 2015 | A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis. | A multi-center, open-label trial of the long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis. - Phase 2b | Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lamazym Product Code: rhLAMAN Pharmaceutical Form: Powder for solution for infusion Current Sponsor code: rhLAMAN Other descriptive name: recombinant human alpha-mannosidase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: range Concentration number: 1.8-2.2 | Zymenex A/S | Not Recruiting | Female: yes Male: yes | 9 | Phase 2b | Spain;Belgium;Denmark;Germany;United Kingdom | |||
| 204 | NCT01626092 | July 11, 2012 | 16 December 2017 | Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders | Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) | Lysosomal Storage Disease;Peroxisomal Disorder | Drug: Campath-1H;Drug: Clofarabine;Drug: Melphalan;Radiation: Total Body Irradiation with Marrow Boosting;Biological: Hematopoietic stem cell transplantation;Drug: Cyclosporine A;Drug: Mycophenolate mofetil | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | 55 Years | All | 3 | N/A | United States | |
| 205 | NCT01645189 | July 2012 | 19 February 2015 | Safety and Efficacy of Hunterase | To Evaluate the Safety and Efficacy of Hunterase(Idursulfase-beta) in Hunter Syndrome Patients < 6 Years of Age Receiving Idursulfase Enzyme Replacement Therapy | Hunter Syndrome | Biological: Hunterase | Green Cross Corporation | Not recruiting | N/A | 5 Years | Male | 6 | Phase 3 | Korea, Republic of | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 206 | EUCTR2011-005682-20-DE | 19/06/2012 | 10 July 2015 | A Pilot Study to Evaluate the Safety and Physiological Effects of Two Doses of BMN 110 in MPS IVA Patients | A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis Type IVA MedDRA version: 16.0 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: BMN 110 Product Code: N/A Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not Available CAS Number: 9025-60-9 Current Sponsor code: rhGALNS Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- Pharmaceutical form of the placebo: Solution for infusion Route of administration of the placebo: Intravenous use | BioMarin Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 25 | United States;Canada;Germany;United Kingdom | ||||
| 207 | EUCTR2011-005703-33-DE | 19/06/2012 | 2 February 2015 | A Clinical Trial Study to Evaluate how Effective and Safe is the Drug BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation | A Phase 2, Open-label, Multinational Study to Evaluate the Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) Who Have Limited Ambulation | Mucopolysaccharidosis Type IVA MedDRA version: 16.1 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) Product Code: BMN 110 Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not Available CAS Number: 9025-60-9 Current Sponsor code: rhGALNS Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- | BioMarin Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | United States;Germany;United Kingdom;Italy | |||
| 208 | EUCTR2011-002044-28-DE | 14/06/2012 | 3 April 2017 | A safety and efficacy study in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injection | A Phase I/II, Multicenter, Open-label, Dose Escalation Study of HGT-1110 Administered Intrathecally in Children with Metachromatic Leukodystrophy | Treatment of Metachromatic Leukodystrophy MedDRA version: 19.0 Level: PT Classification code 10067609 Term: Metachromatic leukodystrophy System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Code: HGT-1110 Pharmaceutical Form: Solution for injection INN or Proposed INN: N/A Current Sponsor code: HGT-1110 Other descriptive name: Recombinant Human Arylsulfatase A (rhASA, Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 30 - | Shire Human Genetics Therapies Inc | Not Recruiting | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Brazil;Denmark;Australia;Germany;Japan | |||
| 209 | NCT01173016 | May 2012 | 14 March 2016 | Administration of IV Laronidase Post Bone Marrow Transplant in Hurler | Pilot Study of Administration of Intravenous Laronidase Following Allogeneic Transplantation for Hurler Syndrome | Hurler Syndrome | Drug: Laronidase | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | 14 Years | Both | 10 | Phase 1 | United States | |
| 210 | NCT01602601 | April 9, 2012 | 16 December 2017 | A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723 | A Study to Test the Possibility of Cross Reaction of the Antibodies Induced by the ELAPRASE (R) to GSK2788723 ELAPRASE is a Trade Mark Owned by a Third Party | Mucopolysaccharidosis II | Drug: Idursulfase;Drug: GSK2788723 | GlaxoSmithKline | Not recruiting | N/A | N/A | All | 10 | N/A | Japan | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 211 | NCT01588314 | April 2012 | 11 June 2019 | Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease | Placebo Controlled Trial Evaluating Gabapentin for the Treatment of Small Fiber Neuropathic Pain in Patients With Fabry Disease | Fabry Disease;Neuropathic Pain | Drug: Gabapentin;Drug: placebo | University of Minnesota - Clinical and Translational Science Institute | Genzyme, a Sanofi Company | Not recruiting | 18 Years | N/A | All | 0 | Phase 2 | United States |
| 212 | NCT01609062 | April 2012 | 19 October 2017 | Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome | A Randomized, Double-Blind, Pilot Study of the Safety and Physiological Effects of Two Doses of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis IVA;Morquio A Syndrome;MPS IVA | Drug: BMN 110 | BioMarin Pharmaceutical | Not recruiting | 7 Years | N/A | All | 25 | Phase 2 | United States;Canada;Germany;United Kingdom | |
| 213 | NCT01650779 | April 2012 | 19 October 2017 | A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta | Evaluation of Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta (The INFORM Study) | Fabry Disease | Biological: Agalsidase beta | Genzyme, a Sanofi Company | Not recruiting | N/A | N/A | Male | 15 | Phase 4 | United States | |
| 214 | NCT01572636 | March 28, 2012 | 1 October 2018 | Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome | MT2011-21C Laronidase (Aldurazyme TM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH). | Mucopolysaccharidosis Type IH;MPS I;Hurler Syndrome | Drug: Laronidase | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | N/A | All | 20 | Phase 2 | United States | |
| 215 | NCT01614574 | March 2012 | 19 October 2017 | Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease | A Multicenter, Open-Label Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease | Gaucher Disease | Biological: velaglucerase alfa | Shire | Not recruiting | 2 Years | N/A | All | 6 | Phase 3 | Japan | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 216 | NCT02090608 | March 2012 | 19 February 2015 | Paricalcitol in Fabry Disease | Fabry Disease;Proteinuria | Drug: Paricalcitol | Federico II University | Not recruiting | 18 Years | 75 Years | Both | 14 | N/A | Italy | ||
| 217 | NCT01510028 | February 2, 2012 | 24 June 2019 | Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD) | A Phase I/II Multicenter Open-label Dose Escalation Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy | Metachromatic Leukodystrophy (MLD) | Biological: Recombinant human arylsulfatase A | Shire | Not recruiting | N/A | 12 Years | All | 24 | Phase 1/Phase 2 | Australia;Denmark;France;Germany;Japan;Argentina;Brazil | |
| 218 | EUCTR2011-003685-32-ES | 27/01/2012 | 26 June 2012 | NA | A Multicenter Extension Study of Taliglucerase alfa in Adult Subjects with Gaucher Disease - NA | Gaucher disease MedDRA version: 14.0 Level: PT Classification code 10018048 Term: Gaucher's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: recombinant human glucerebrosidase Product Code: Taliglucerase Alfa Pharmaceutical Form: Powder and solution for solution for injection INN or Proposed INN: Taliglucerase alfa CAS Number: 37228-64-1 Current Sponsor code: Taliglucerase alfa Other descriptive name: prGCD Concentration unit: IU/ml international unit(s)/millilitre Concentration type: up to Concentration number: 40- | Protalix Biotherapeutics | Authorised | Female: yes Male: yes | 25 | Serbia;Canada;Mexico;Chile;Spain;Italy;South Africa;Israel | ||||
| 219 | NCT03333200 | January 11, 2012 | 11 November 2019 | Longitudinal Study of Neurodegenerative Disorders | Longitudinal Study of Neurodegenerative Disorders | MLD;Krabbe Disease;ALD;MPS I;MPS II;MPS III;Vanishing White Matter Disease;GM3 Gangliosidosis;PKAN;Tay-Sachs Disease;NP Deficiency;Osteopetrosis;Alpha-Mannosidosis;Sandhoff Disease;Niemann-Pick Diseases;MPS IV;Gaucher Disease;GAN;GM1 Gangliosidoses;Morquio Disease;S-Adenosylhomocysteine Hydrolase Deficiency;Batten Disease;Pelizaeus-Merzbacher Disease;Leukodystrophy;Lysosomal Storage Diseases;Purine Nucleoside Phosphorylase Deficiency;Multiple Sulfatase Deficiency Disease | Other: Palliative Care;Biological: Hematopoetic Stem Cell Transplantation | University of Pittsburgh | Recruiting | N/A | N/A | All | 1500 | Phase 1 | United States | |
| 220 | EUCTR2011-000212-25-GB | 05/01/2012 | 25 June 2018 | An extension to the safety, tolerability and preliminary efficacy study of Idursulfase-IT in patients with Hunter syndrome associated with learning disability | An Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment | Treatment of Hunter syndrome and cognitive impairment MedDRA version: 20.1 Level: PT Classification code 10056889 Term: Mucopolysaccharidosis II System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Idursulfase(12S)-IT Product Code: 12S-IT Pharmaceutical Form: Solution for injection INN or Proposed INN: idursulfase CAS Number: 50936-59-9 Current Sponsor code: 12S-IT Other descriptive name: Idursulfase-IT Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 10- | Shire HGT Inc | Authorised | Female: no Male: yes | 15 | Phase 1;Phase 2 | United States;Canada;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 221 | EUCTR2011-002880-42-GB | 05/12/2011 | 21 January 2013 | A research study to look at the safety, effectiveness and the long-term effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fats who were previously treated with SBC-102 | An Open Label Multicenter Extension Study to Evaluate the Long-Term Efficacy and Safety of SBC 102 in Children with Lysosomal Acid Lipase Deficiency Who Previously Received Treatment with SBC-102 - Extension to LAL-CL03 in children with LAL deficiency | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 14.0 Level: SOC Classification code 10027433 Term: Metabolism and nutrition disorders System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0 Level: HLGT Classification code 10021605 Term: Inborn errors of metabolism System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: recombinant human lysosomal acid lipase (rhLAL) Product Code: SBC-102 Pharmaceutical Form: Solution for infusion INN or Proposed INN: not available CAS Number: 1276027-63-4 Current Sponsor code: SBC-102 Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Synageva Biopharma Corp. | Not Recruiting | Female: yes Male: yes | 10 | United Kingdom;Germany;France;United States | ||||
| 222 | NCT02012114 | December 2011 | 19 February 2015 | A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications | A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications | Cystinosis | Other: Cysteamine bitartrate | Hospices Civils de Lyon | Recruiting | 4 Years | N/A | Both | 90 | N/A | France | |
| 223 | EUCTR2011-003197-84-GB | 22/11/2011 | 7 January 2013 | A Study to Evaluate the Safety and Efficacy of BMN 110 in MPS IVA Patients Less Than 5 Years of Age | A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age with Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis Type IVA MedDRA version: 14.1 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: BMN 110 Product Code: N/A Pharmaceutical Form: Solution for infusion INN or Proposed INN: N/A CAS Number: 9025-60-9 Current Sponsor code: rhGALNS Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance Concentration unit: mg/kg milligram(s)/kilogram Concentration type: equal Concentration number: 1- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 15 | Phase 2 | United States;Italy;United Kingdom | |||
| 224 | EUCTR2011-001513-13-CZ | 10/11/2011 | 20 August 2018 | A research study to look at the long-term safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. This is an extension study for those subjects who previously received treatment in study LAL-CL01. | AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WHO PREVIOUSLY RECEIVED TREATMENT IN STUDY LAL-CL01 - SBC-102 in patients with liver dysfunction due to LAL deficiency | Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDRA version: 14.1 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 100000004850 MedDRA version: 14.1 Level: HLGT Classification code 10021605 Term: Inborn errors of metabolism System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1 Level: SOC Classification code 10027433 Term: Metabolism and nutrition disorders System Organ Class: 10027433 - Metabolism and nutrition disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: recombinant human lysosomal acid lipase Product Code: SBC-102 Pharmaceutical Form: Solution for infusion INN or Proposed INN: sebelipase alfa CAS Number: 1276027-63-4 Current Sponsor code: SBC-102 Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA), lysosomal acid lipase (human gene LIPA) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Synageva Biopharma Corp. | Not Recruiting | Female: yes Male: yes | 9 | Phase 2 | United Kingdom;Czech Republic;France;United States | |||
| 225 | NCT01473875 | November 2011 | 16 December 2017 | Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 | An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 | Lysosomal Acid Lipase Deficiency;Wolman Disease | Drug: SBC-102 | Alexion Pharmaceuticals | Not recruiting | N/A | N/A | All | 10 | Phase 2/Phase 3 | France;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 226 | NCT01476163 | November 2011 | 4 February 2019 | Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease | Physician Initiated Expanded Access Request for Treatment Use of Migalastat Hydrochloride (AT1001), an Investigational Treatment for Individual Patients With Fabry Disease (AT1001-188) | Fabry Disease | Drug: migalastat HCl | Amicus Therapeutics | Not recruiting | 16 Years | 74 Years | All | N/A | United States;Australia | ||
| 227 | NCT01488097 | November 2011 | 16 December 2017 | Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency | An Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01 | Cholesterol Ester Storage Disease(CESD);Lysosomal Acid Lipase Deficiency | Drug: SBC-102 (sebelipase alfa) | Alexion Pharmaceuticals | Not recruiting | 18 Years | 65 Years | All | 8 | Phase 2 | United States;Canada;Czech Republic;France;United Kingdom | |
| 228 | EUCTR2011-001513-13-GB | 24/10/2011 | 30 April 2019 | A research study to look at the long-term safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. This is an extension study for those subjects who previously received treatment in study LAL-CL01. | AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WHO PREVIOUSLY RECEIVED TREATMENT IN STUDY LAL-CL01 - Extension to LAL-CL01 in patients with liver dysfunction due to LAL deficiency | Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDRA version: 14.1 Level: SOC Classification code 10027433 Term: Metabolism and nutrition disorders System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1 Level: HLGT Classification code 10021605 Term: Inborn errors of metabolism System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: recombinant human lysosomal acid lipase Product Code: SBC-102 Pharmaceutical Form: Solution for infusion INN or Proposed INN: NA CAS Number: 1276027-63-4 Current Sponsor code: SBC-102 Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Synageva Biopharma Corp. | Not Recruiting | Female: yes Male: yes | 9 | Phase 2 | France;United States;Czech Republic;United Kingdom | |||
| 229 | NCT01458119 | October 14, 2011 | 9 October 2018 | Open-Label Phase 3 Long-Term Safety Study of Migalastat | An Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease | Fabry Disease | Drug: migalastat hydrochloride | Amicus Therapeutics | Not recruiting | 16 Years | N/A | All | 85 | Phase 3 | United States;Argentina;Australia;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Spain;Turkey;United Kingdom;Austria;Japan | |
| 230 | NCT01489995 | October 2011 | 19 February 2015 | Migalastat Food Effect Study | A Randomized, Open-Label, 5-Period Crossover Study to Evaluate the Effect of Meal Type and Timing on the Pharmacokinetics of Migalastat Hydrochloride in Healthy Volunteers. | Fabry Disease | Drug: A (migalastat);Drug: B (migalastat);Drug: C (migalastat);Drug: D (migalastat);Drug: E (migalastat) | Amicus Therapeutics | Not recruiting | 18 Years | 65 Years | Both | 20 | Phase 1 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 231 | NCT01515956 | October 2011 | 16 December 2017 | Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) | A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis IVA;Morquio A Syndrome;MPS IVA | Drug: BMN 110 | BioMarin Pharmaceutical | Not recruiting | N/A | 5 Years | All | 15 | Phase 2 | United States;Italy;Taiwan;United Kingdom | |
| 232 | NCT01411228 | September 2011 | 17 September 2018 | A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease | A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease | Gaucher Disease | Drug: Taliglucerase alfa | Pfizer | Not recruiting | 2 Years | 18 Years | All | 15 | Phase 3 | Israel;Paraguay;South Africa | |
| 233 | NCT01432561 | September 2011 | 19 October 2017 | Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™ | Food-Effect on Bioavailability of Cystagon™ in Normal, Healthy Adults | Cystinosis;Nephropathic Cystinosis | Drug: Cysteamine bitartrate | University of California, San Diego | Raptor Pharmaceuticals Corp. | Not recruiting | 18 Years | N/A | All | 8 | N/A | United States |
| 234 | NCT01853852 | September 2011 | 19 February 2015 | A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects | A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects | Fabry Disease | Drug: GR181413A/AT1001 solution;Drug: GR181413A/AT1001 capsule;Other: Potable water;Drug: Placebo capsule | Amicus Therapeutics | Not recruiting | 20 Years | 55 Years | Both | 14 | Phase 1 | Australia | |
| 235 | NCT02770625 | September 2011 | 16 December 2017 | Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease | A Multicenter, Open-Label Phase III Study to Evaluate the Safety and Efficacy of ISU302 (Imiglucerase for Injection) in Patients With Type 1 Gaucher Disease | Gaucher Disease, Type 1 | Drug: ISU302 | ISU Abxis Co., Ltd. | Not recruiting | 2 Years | N/A | All | 8 | Phase 3 | ||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 236 | NCT01298141 | August 10, 2011 | 11 June 2018 | A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease | A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal® (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease | Fabry Disease | Biological: agalsidase alfa | Shire | Not recruiting | N/A | N/A | All | 171 | Phase 3 | Canada | |
| 237 | NCT01422187 | August 2011 | 19 October 2017 | A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease | A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease | Gaucher Disease | Drug: Taliglucerase alfa | Protalix | Not recruiting | 18 Years | N/A | All | 19 | Phase 3 | ||
| 238 | NCT01730469 | August 2011 | 16 December 2017 | Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal Function | An Open-Label Study to Determine the Safety and Pharmacokinetics of AT1001 in Subjects With Impaired Renal Function and Healthy Subjects With Normal Renal Function (AT1001-015) | Fabry Disease | Drug: AT1001 150 mg | Amicus Therapeutics | Not recruiting | 18 Years | 75 Years | All | 32 | Phase 1 | United States | |
| 239 | NCT01730482 | August 2011 | 19 February 2015 | A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014) | A Phase 1 Study to Investigate the Absorption, Metabolism and Excretion of [14C] AT1001 (Migalastat Hydrochloride) Following a Single Oral Administration in Healthy Volunteers (AT1001-014) | Fabry Disease | Drug: [14C] AT1001 | Amicus Therapeutics | Not recruiting | 30 Years | 55 Years | Male | 6 | Phase 1 | ||
| 240 | NCT01399047 | July 2011 | 19 October 2017 | Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis | Phase II, Randomized, Placebo Controlled Trial of the Safety and Tolerability of Mycophenolate in Children With Juvenile Neuronal Ceroid Lipofuscinosis | Juvenile Neuronal Ceroid Lipofuscinosis | Drug: Mycophenolate mofetil;Drug: Liquid Placebo | University of Rochester | Batten Disease Support and Research Assocation (BDSRA) | Not recruiting | 6 Years | 25 Years | All | 19 | Phase 2 | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 241 | NCT01427517 | July 2011 | 11 November 2019 | Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease | Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease | Parkinson's Disease;Gaucher's Disease | Drug: N-acetylcysteine | University of Minnesota | Rare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | Not recruiting | 18 Years | N/A | All | 9 | Phase 1 | United States |
| 242 | EUCTR2010-020199-45-GB | 08/06/2011 | 7 January 2013 | A Phase 3 Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis Type IVA MedDRA version: 14.1 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) Product Code: BMN 110 Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not Available CAS Number: 9025-60-9 Current Sponsor code: rhGALNS Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- Pharmaceutical form of the placebo: Solution for infusion Route of administration of the placebo: Intravenous use | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 162 | Phase 3 | Portugal;United States;Qatar;Saudi Arabia;Taiwan;Colombia;Italy;United Kingdom;Switzerland;France;Canada;Argentina;Poland;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of | |||
| 243 | NCT01363492 | May 2011 | 19 October 2017 | Safety Study of Replagal® Therapy in Children With Fabry Disease | An Open-Label Clinical Trial of Replagal® Enzyme Replacement Therapy in Children With Fabry Disease Who Are Naive to Enzyme Replacement Therapy | Fabry Disease | Biological: Replagal (agalsidase alfa) | Shire | Not recruiting | 7 Years | 17 Years | All | 15 | Phase 2 | United States | |
| 244 | EUCTR2011-000032-28-GB | 18/04/2011 | 10 September 2018 | A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fats | An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 14.1 Level: SOC Classification code 10027433 Term: Metabolism and nutrition disorders System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1 Level: HLGT Classification code 10021605 Term: Inborn errors of metabolism System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: recombinant human lysosomal acid lipase (rhLAL) Product Code: SBC-102 Pharmaceutical Form: Solution for infusion INN or Proposed INN: not available CAS Number: 1276027-63-4 Current Sponsor code: SBC-102 Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Synageva Biopharma Corp. | Not Recruiting | Female: yes Male: yes | 10 | Phase 1;Phase 2;Phase 3 | France;United States;Taiwan;Ireland;Germany;Italy;United Kingdom | |||
| 245 | NCT01372228 | April 2011 | 30 September 2019 | Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders | Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders | Hurler Syndrome (MPS I);Hurler-Scheie Syndrome;Hunter Syndrome (MPS II);Sanfilippo Syndrome (MPS III);Krabbe Disease (Globoid Leukodystrophy);Metachromatic Leukodystrophy (MLD);Adrenoleukodystrophy (ALD and AMN);Sandhoff Disease;Tay Sachs Disease;Pelizaeus Merzbacher (PMD);Niemann-Pick Disease;Alpha-mannosidosis | Biological: hematopoietic stem cell infusion | University of Louisville | Duke University | Not recruiting | N/A | N/A | All | 30 | Phase 1/Phase 2 | United States |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 246 | EUCTR2010-024068-16-GB | 08/03/2011 | 18 September 2012 | SBC-102 in patients with liver dysfunction due to LAL deficiency | An open label multicenter study to evaluate the safety, tolerability and pharmacokinetics of SBC-102 in adult patients with liver dysfunction due to lysosomal acid lipase deficiency. - SBC-102 in patients with liver dysfunction due to LAL deficiency | Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDRA version: 14.0 Level: SOC Classification code 10027433 Term: Metabolism and nutrition disorders System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0 Level: HLGT Classification code 10021605 Term: Inborn errors of metabolism System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0 Level: HLT Classification code 10024579 Term: Lysosomal storage disorders System Organ Class: 10010331 - Congenital, familial and genetic disorders | Product Name: recombinant human lysosomal acid lipase (rhLAL) Product Code: SBC-102 Pharmaceutical Form: Solution for infusion INN or Proposed INN: not available Current Sponsor code: SBC-102 Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Synageva Biopharma Corp. | Not Recruiting | Female: yes Male: yes | 9 | Czech Republic;United Kingdom | ||||
| 247 | NCT01304277 | March 2011 | 19 October 2017 | This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. | A Phase II Comparability Study Between Replagal® Produced From Agalsidase Alfa Manufactured by 2 Different Processes in Adult Male Patients With Fabry Disease | Fabry Disease | Biological: agalsidase alfa | Shire | Not recruiting | 18 Years | 65 Years | Male | 17 | Phase 2 | Canada | |
| 248 | NCT01614431 | March 2011 | 19 February 2015 | N Acetyl Cysteine for Cystinosis Patients | N Acetyl Cysteine Can Decrease the Progression of Renal Disease in Cystinosis Patients | Renal Disease;Cystinosis | Drug: N acetyl cysteine | University of Sao Paulo | Fundação de Amparo à Pesquisa do Estado de São Paulo | Not recruiting | 1 Year | 18 Years | Both | 23 | Phase 4 | |
| 249 | EUCTR2010-021348-16-GB | 09/02/2011 | 27 February 2017 | Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) | An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients with Sanfilippo Syndrome Type A (MPS IIIA) | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 19.1 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.1 Level: PT Classification code 10056890 Term: Mucopolysaccharidosis III System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 Pharmaceutical Form: Solution for injection INN or Proposed INN: Not available Current Sponsor code: HGT-1410 Other descriptive name: Recombinant human heparan N-sulfatase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 15- | Shire Human Genetic Therapies, Inc | Authorised | Female: yes Male: yes | 7 | Phase 1;Phase 2 | United Kingdom | |||
| 250 | NCT01196871 | February 2011 | 19 February 2015 | Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry Disease | An Open-label Phase 2A Study to Investigate Drug-Drug Interactions Between AT1001 and Agalsidase in Subjects With Fabry Disease. | Fabry Disease | Drug: AT1001 | Amicus Therapeutics | Not recruiting | 18 Years | 65 Years | Male | 21 | Phase 2 | United States;Australia;Belgium;Canada;Netherlands;France;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 251 | NCT01161914 | January 2011 | 5 September 2016 | The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease | A Multi-national Randomized Double Blinded Phase III Study to Evaluate the Safety and Efficacy of ISU302(Imiglucerase for Injection) or Cerezyme in Patient With Type I Gaucher Disease | Gaucher Disease | Drug: Cerezyme®;Drug: ISU302 | ISU Abxis Co., Ltd. | Not recruiting | 2 Years | 75 Years | Both | 0 | Phase 3 | ||
| 252 | EUCTR2010-020198-18-GB | 30/12/2010 | 5 November 2012 | A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA | A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis Type IVA MedDRA version: 14.0 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: BMN 110 Product Code: N/A Pharmaceutical Form: Solution for infusion INN or Proposed INN: N/A CAS Number: 9025-60-9 Current Sponsor code: rhGALNS Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- Pharmaceutical form of the placebo: Solution for infusion Route of administration of the placebo: Intravenous use | BioMarin Pharmaceutical Inc | Not Recruiting | Female: yes Male: yes | 162 | Phase 3 | United States;Portugal;Qatar;Taiwan;Saudi Arabia;Spain;Turkey;Colombia;Switzerland;United Kingdom;Italy;France;Canada;Argentina;Poland;Brazil;Australia;Denmark;Norway;Germany;Netherlands;Japan;Korea, Republic of | |||
| 253 | NCT01218659 | December 2010 | 3 August 2015 | Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease | A Randomized, Open-Label Study to Compare the Efficacy and Safety of AT1001 and Enzyme Replacement Therapy (ERT) in Patients With Fabry Disease and AT1001-Responsive GLA Mutations, Who Were Previously Treated With ERT | Fabry Disease | Drug: migalastat hydrochloride;Biological: agalsidase | Amicus Therapeutics | Not recruiting | 16 Years | 74 Years | Both | 60 | Phase 3 | United States;Argentina;Australia;Austria;Belgium;Brazil;Denmark;France;Germany;Italy;Japan;Switzerland;Turkey;United Kingdom;Greece;Poland;Taiwan | |
| 254 | NCT01238315 | November 2010 | 19 February 2015 | Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis | A Phase Ib Study of the Safety and Preliminary Efficacy of Allogeneic Intracerebral Human Central Nervous System Stem Cell Transplantation in Subjects With Non-Refractory Infantile and Late Infantile Neuronal Ceroid Lipofuscinosis | Neuronal Ceroid Lipofuscinosis | Biological: HuCNS-SC | StemCells, Inc. | Not recruiting | 6 Months | 6 Years | Both | 0 | Phase 1 | United States | |
| 255 | EUCTR2010-021048-16-GB | 07/10/2010 | 24 February 2014 | A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) | A Multicenter, Multinational, Open-Label, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) | Mucopolysaccharidosis Type IVA MedDRA version: 16.1 Level: PT Classification code 10028095 Term: Mucopolysaccharidosis IV System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: BMN 110 Product Code: N/A Pharmaceutical Form: Solution for infusion INN or Proposed INN: Not available CAS Number: 9025-60-9 Current Sponsor code: rhGALNS Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 drug substance Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 20 | United Kingdom | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 256 | EUCTR2010-022084-36-DK | 05/10/2010 | 19 March 2012 | A single center, open-label, dose escalation study of the safety and pharmacokinetics of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosis. | A single center, open-label, dose escalation study of the safety and pharmacokinetics of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosis. | Treatment of alpha-Mannosidosis | Product Name: Lamazym Product Code: rhLAMAN Pharmaceutical Form: Solution for infusion INN or Proposed INN: recombinant human alpha-mannosidase Current Sponsor code: rhLAMAN Concentration unit: mg/ml milligram(s)/millilitre Concentration type: range Concentration number: 1,8-2,2 | Zymenex A/S | Not Recruiting | Female: yes Male: yes | 10 | Denmark | ||||
| 257 | EUCTR2010-022085-26-DK | 05/10/2010 | 15 July 2013 | A single center, randomized, open-label, multiple-dose study of the efficacy and long-term safety of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosis | A single center, randomized, open-label, multiple-dose study of the efficacy and long-term safety of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) for the treatment of patients with alpha-mannosidosis | Treatment of alpha-Mannosidosis | Product Name: Lamazym Product Code: rhLAMAN Pharmaceutical Form: Solution for infusion INN or Proposed INN: recombinant human alpha-mannosidase Current Sponsor code: rhLAMAN Concentration unit: mg/ml milligram(s)/millilitre Concentration type: range Concentration number: 1,8-2,2 | Zymenex A/S | Not Recruiting | Female: yes Male: yes | 10 | Denmark | ||||
| 258 | NCT00418821 | October 2010 | 16 December 2017 | A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants | A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants | Mucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;Scheie | Biological: Aldurazyme (laronidase) | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Recruiting | N/A | N/A | Female | 10 | Phase 4 | Italy;United States |
| 259 | NCT01881633 | October 2010 | 19 February 2015 | A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers | A Dose Block-randomized, Double-blind, Placebo-controlled, Single Dosing, Dose-escalation Phase I Clinical Trial to Evaluate the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers | Gaucher Disease | Drug: ISU302;Drug: Placebo | ISU Abxis Co., Ltd. | Not recruiting | 20 Years | 45 Years | Male | 24 | Phase 1 | ||
| 260 | EUCTR2010-020098-18-FR | 09/09/2010 | 19 March 2012 | CrYSTobs A cohort of patients with cystinosis : compliance to cysteamine and neurological complications An auxiliary study to Raptor RP103 03 and RP103 04 - CrYSTobs | CrYSTobs A cohort of patients with cystinosis : compliance to cysteamine and neurological complications An auxiliary study to Raptor RP103 03 and RP103 04 - CrYSTobs | nephropatic cystinosis MedDRA version: 12.1 Level: LLT Classification code 10011777 Term: Cystinosis | Trade Name: CYSTAGON Product Name: CYSTAGON Pharmaceutical Form: Capsule* INN or Proposed INN: MERCAPTAMINE BITARTRATE CAS Number: 27761-19-9 Other descriptive name: CYSTEAMINE Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 50-150 Product Name: RP 103 Pharmaceutical Form: Capsule* INN or Proposed INN: MERCAPTAMINE BITARTRATE CAS Number: 27761-19-9 Other descriptive name: CYSTEAMINE Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 25- Product Name: RP 103 Pharmaceutical Form: Capsule* INN or Proposed INN: MERCAPTAMINE BITARTRATE CAS Number: 27761-19-9 Other descriptive name: CYSTEAMINE Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 75- | HOSPICES CIVILS DE LYON | Authorised | Female: yes Male: yes | France | |||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 261 | EUCTR2009-017882-42-FR | 12/08/2010 | 21 August 2017 | A Randomized, Crossover, Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon® in Patients with Nephropathic Cystinosis | A Randomized, Crossover, Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon® in Patients with Nephropathic Cystinosis | Cystinosis MedDRA version: 12.1 Level: LLT Classification code 10011777 Term: Cystinosis | Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 Pharmaceutical Form: Capsule, hard INN or Proposed INN: mercaptamine bitartrate CAS Number: CAS 27761-19 Current Sponsor code: RP103 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 75- INN or Proposed INN: mercaptamine bitartrate CAS Number: CAS 27761-19 Current Sponsor code: RP103 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 25- Trade Name: Cystagon Pharmaceutical Form: Capsule, hard | Raptor Therapeutics Inc. | Not Recruiting | Female: yes Male: yes | Phase 3 | France;Netherlands | ||||
| 262 | NCT01506141 | August 1, 2010 | 6 May 2019 | Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment | An Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase® in Pediatric Patients With Hunter Syndrome and Cognitive Impairment | Hunter Syndrome | Drug: Idursulfase-IT;Drug: Elaprase | Shire | Not recruiting | 3 Years | 18 Years | Male | 20 | Phase 1/Phase 2 | United States;Canada;United Kingdom | |
| 263 | NCT01161576 | August 2010 | 29 April 2019 | Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) | Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) | Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis | Biological: AAVrh.10CUhCLN2 vector 9.0x10^11 genome copies;Biological: AAVrh.10CUhCLN2 vector 2.85x10^11 genome copies | Weill Medical College of Cornell University | National Institutes of Health (NIH) | Not recruiting | 2 Years | 18 Years | All | 25 | Phase 1 | United States |
| 264 | NCT01165697 | July 2010 | 16 December 2017 | Establishment of Biomarkers for Fabry Disease | Establishment of Biomarkers for Fabry Disease | Fabry Disease | Other: Fluorescein angiography | Ohio State University | Genzyme, a Sanofi Company | Not recruiting | 18 Years | N/A | All | 4 | N/A | United States |
| 265 | NCT01000961 | June 2010 | 16 December 2017 | Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis | A Randomized, Crossover Pharmacokinetic and Pharmacodynamic Study to Determine the Safety and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cystagon® in Patients With Nephropathic Cystinosis | Cystinosis | Drug: Cystagon® (Cysteamine Bitartrate);Drug: Cysteamine Bitartrate Delayed-release Capsules (RP103) | Horizon Pharma USA, Inc. | Not recruiting | 6 Years | N/A | All | 43 | Phase 3 | United States;France;Netherlands | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 266 | NCT01074944 | June 2010 | 19 October 2017 | A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) | A Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Once Daily Versus Twice Daily Dosing of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 | Gaucher Disease | Drug: Eliglustat tartrate | Genzyme, a Sanofi Company | Not recruiting | 18 Years | N/A | All | 170 | Phase 3 | United States;Australia;Austria;Brazil;Canada;China;Croatia;France;Greece;India;Japan;Netherlands;Portugal;Romania;Russian Federation;Serbia;Sweden | |
| 267 | NCT01301898 | May 2010 | 19 February 2015 | To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients | Randomized, Single-blind, Active-controlled, Phase 1/2 Study to Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome (Mucopolysaccharidosis II) Patients | Mucopolysaccharidosis II | Drug: GC1111_0.5mg/kg;Drug: GC1111_1.0mg/kg;Drug: Elaprase_0.5mg/kg | Green Cross Corporation | Not recruiting | 6 Years | 35 Years | Male | 31 | Phase 1/Phase 2 | Korea, Republic of | |
| 268 | NCT01414985 | April 15, 2010 | 28 January 2019 | AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis | Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children With LINCL With Uncommon Genotypes and/or Moderate to Severe Impairment | Late Infantile Neuronal Ceroid Lipofuscinosis;Batten Disease | Biological: AAVrh.10CUCLN2 | Weill Medical College of Cornell University | Not recruiting | 3 Years | 18 Years | All | 8 | Phase 1/Phase 2 | United States | |
| 269 | NCT01136304 | April 2010 | 8 June 2015 | Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) | Retrospective and Prospective Validation of a Disease Severity Score System (DS3) for Adults With Type 1 Gaucher Disease (GD1) | Gaucher Disease | Drug: Imiglucerase | University Research Foundation for Lysosomal Storage Diseases, Inc. | University of Pittsburgh | Not recruiting | 18 Years | N/A | Both | 173 | N/A | United States |
| 270 | JPRN-jRCTs061180090 | 16/03/2010 | 22 July 2019 | Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol | An Open-Label, Dose Escalation, Proof-of-Concept Clinical Trial of Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol - Chaperone therapy of Neuronopathic Gaucher Disease with Ambroxol | Neuronopathic Gaucher disease Gaucher disease, Pharmacological chaperone therapy, ambroxol;D005776 | Ambroxol at a dose level of 25 mg/kg/day (upper limit: 1300mg/day) will be given by mouth for 6 months. | Yoshihiro Maegaki | Not Recruiting | Both | 25 | Phase 2 | none | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 271 | EUCTR2009-017349-77-IT | 15/03/2010 | 19 March 2012 | A Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of Metachromatic Leukodystrophy - TIGET-MLD | A Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of Metachromatic Leukodystrophy - TIGET-MLD | metachromatic leukodystrophy MedDRA version: 9.1 Level: PT Classification code 10024381 | Product Name: autologous CD34+ cells transduced with a lentiviral vector encoding the ARSA cDNA Pharmaceutical Form: Suspension for injection Current Sponsor code: autologous CD34+ cells transduced with a lentiviral vector encoding the ARSA cDNA Concentration unit: % percent Concentration type: equal Concentration number: 100- Trade Name: BUSILVEX Pharmaceutical Form: Solution for infusion INN or Proposed INN: Busulfan Concentration unit: mg/kg milligram(s)/kilogram Concentration type: equal Concentration number: 1- | FONDAZIONE CENTRO S. RAFFAELE DEL MONTE TABOR | Authorised | Female: yes Male: yes | Phase 1/2 | Italy | ||||
| 272 | EUCTR2009-015985-75-PL | 03/02/2010 | 19 August 2013 | Follow on study in adault Fabry Disease patients | An Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal Enzyme Replacement Therapy Administered to Adult Patients with Fabry Disease | Fabry disease MedDRA version: 14.0 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Trade Name: Replagal Product Name: Replagal Pharmaceutical Form: Solution for infusion INN or Proposed INN: AGALSIDASE ALFA CAS Number: 104138-64-9 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- | Shire Human Genetic Therapies (HGT), Inc. | Not Recruiting | Female: yes Male: yes | 43 | United States;Czech Republic;Slovenia;Paraguay;Finland;Poland;Australia;United Kingdom | ||||
| 273 | EUCTR2010-018365-34-FR | 2 October 2017 | A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Nephropathic Cystinosis - RP103-04 | A Long-Term, Open-Label, Safety and Efficacy Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Nephropathic Cystinosis - RP103-04 | Cystinosis MedDRA version: 12.1 Level: LLT Classification code 10011777 Term: Cystinosis | Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 Pharmaceutical Form: Capsule, hard INN or Proposed INN: mercaptamine bitartrate CAS Number: CAS 27761-19 Current Sponsor code: RP103 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 25, 75- | Raptor Therapeutics Inc. | Not Available | Female: yes Male: yes | 20 | Phase 3 | France;Netherlands | ||||
| 274 | EUCTR2010-019962-10-FR | 19 May 2014 | AN OPEN-LABEL, SINGLE ARM, MONOCENTRIC, PHASE I/II CLINICAL STUDY OF INTRACEREBRAL ADMINISTRATION OF ADENO-ASSOCIATED VIRAL VECTORS SEROTYPE 10 CARRYING THE HUMAN SGSH AND SUMF1 cDNAS FOR THE TREATMENT OF SANFILIPPO TYPE A SYNDROME - Intracerebral Gene therapy for Sanfilippo type A syndrome | AN OPEN-LABEL, SINGLE ARM, MONOCENTRIC, PHASE I/II CLINICAL STUDY OF INTRACEREBRAL ADMINISTRATION OF ADENO-ASSOCIATED VIRAL VECTORS SEROTYPE 10 CARRYING THE HUMAN SGSH AND SUMF1 cDNAS FOR THE TREATMENT OF SANFILIPPO TYPE A SYNDROME - Intracerebral Gene therapy for Sanfilippo type A syndrome | Sanfilippo type A syndrome (also named Mucopolysaccharidosis Type A) MedDRA version: 12.1 Level: LLT Classification code 10056918 Term: Sanfilippo's syndrome | Product Name: AAVrh.10-hMPSIIIA Product Code: SAF-301 Pharmaceutical Form: Solution for injection | SANFILIPPO Therapeutics SAS | Not Recruiting | Female: yes Male: yes | 4 | Phase 1/2 | France | ||||
| 275 | NCT01043640 | December 2009 | 16 December 2017 | Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders | Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders | Mucopolysaccharidosis;Hurler Syndrome;Hunter Syndrome;Maroteaux-Lamy Syndrome;Sly Syndrome;Alpha Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Adrenoleukodystrophy (ALD);Krabbe Disease;Metachromatic Leukodystrophy (MLD);Sphingolipidoses;Peroxisomal Disorders | Drug: Campath-1H;Drug: Cyclophosphamide;Drug: Busulfan;Procedure: Allogeneic stem cell transplantation;Drug: Cyclosporine A;Drug: Mycophenolate Mofetil | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | 21 Years | All | 46 | Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 276 | EUCTR2008-005223-28-NL | 04/11/2009 | 28 August 2012 | A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have Reached Therapeutic Goals with Enzyme Replacement Therapy - ENCORE | A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 who have Reached Therapeutic Goals with Enzyme Replacement Therapy - ENCORE | Gaucher Disease type I MedDRA version: 9.1 Level: PT Classification code 10018048 Term: Gaucher's disease | Product Name: Genz-112638 Product Code: Genz-112638 Pharmaceutical Form: Capsule, hard INN or Proposed INN: Eliglustat CAS Number: NA Current Sponsor code: Genz-112638 Other descriptive name: not available Concentration unit: mg milligram(s) Concentration type: up to Concentration number: 150- Trade Name: Cerezyme Product Name: Cerezyme Product Code: Imiglucerase Pharmaceutical Form: Powder for concentrate for solution for infusion INN or Proposed INN: IMIGLUCERASE CAS Number: 154248-97-2 Other descriptive name: Recombinant human derived macrophage-targeted ß-Glucocerebrosidase Concentration unit: U unit(s) Concentration type: up to Concentration number: 60 - | Genzyme Europe B.V. | Authorised | Female: yes Male: yes | 186 | Phase 3 | Czech Republic;Germany;United Kingdom;Netherlands;France;Spain;Italy | |||
| 277 | NCT00891202 | November 2009 | 16 December 2017 | A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) | A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 (ENGAGE) | Gaucher Disease, Type 1 | Drug: Eliglustat tartrate;Drug: Placebo | Genzyme, a Sanofi Company | Not recruiting | 16 Years | N/A | All | 40 | Phase 3 | United States;Bulgaria;Canada;Colombia;India;Israel;Lebanon;Mexico;Russian Federation;Serbia;Tunisia;United Kingdom;Chile;Georgia;Jordan;Netherlands;Saudi Arabia | |
| 278 | NCT00920647 | November 2009 | 19 October 2017 | A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase® | A Phase I/II, Randomized, Safety and Ascending Dose Ranging Study of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase in Pediatric Patients With Hunter Syndrome and Cognitive Impairment | Hunter Syndrome | Other: Control;Drug: Idursulfase IT (1 mg);Drug: Idursulfase IT (10 mg);Drug: Idursulfase IT (30 mg) | Shire | Not recruiting | 3 Years | 18 Years | Male | 16 | Phase 1/Phase 2 | United States;United Kingdom | |
| 279 | NCT01031173 | September 2009 | 19 February 2015 | Treatment Protocol of Replagal for Patients With Fabry Disease | An Open-label Treatment Protocol to Evaluate the Safety of Replagal Treatment in Patients With Fabry Disease. | Fabry Disease | Biological: agalsidase alfa | Shire | Not recruiting | N/A | N/A | Both | N/A | United States | ||
| 280 | NCT00925301 | August 2009 | 19 February 2015 | Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease | A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy, Safety and Pharmacodynamics of AT1001 in Patients With Fabry Disease and AT1001-Responsive GLA Mutations | Fabry Disease | Drug: migalastat hydrochloride;Drug: Placebo | Amicus Therapeutics | Not recruiting | 16 Years | 74 Years | Both | 67 | Phase 3 | United States;Argentina;Australia;Belgium;Brazil;Canada;Denmark;Egypt;France;Germany;Italy;Netherlands;Poland;South Africa;Spain;Turkey;United Kingdom;Chile;Israel | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 281 | NCT00954460 | August 2009 | 19 February 2015 | Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease | Multicenter Open-Label Treatment Protocol to Observe the Safety of Gene-Activated™ Human Glucocerebrosidase (GA-GCB, Velaglucerase Alfa) ERT in Newly Diagnosed or Previously Treated (With Imiglucerase) Patients With Type 1 Gaucher Disease | Gaucher Disease, Type 1 | Drug: velaglucerase alfa | Shire | Not recruiting | 3 Years | N/A | Both | N/A | United States | ||
| 282 | NCT00975689 | August 2009 | 19 October 2017 | Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine | Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine | Niemann-Pick Disease, Type C | Drug: N-Acetyl Cysteine | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | University of Oxford;Washington University School of Medicine;National Human Genome Research Institute (NHGRI) | Not recruiting | 12 Months | N/A | All | 35 | Phase 1/Phase 2 | United States |
| 283 | NCT01102686 | August 2009 | 19 February 2015 | Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) | Proposed Investigator-Initiated Clinical Trial of Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) | Gangliosidoses, GM2;Sandhoff Disease;Tay-Sachs Disease | Drug: Pyrimethamine;Drug: Leucovorin | The Hospital for Sick Children | Not recruiting | 17 Years | N/A | Both | 20 | Phase 1/Phase 2 | Canada | |
| 284 | NCT00852358 | June 2009 | 1 February 2016 | A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I | A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I | Cognitive Decline;Mucopolysaccharidosis I;Hurler-Scheie Syndrome;Scheie Syndrome;Lysosomal Storage Disease | Drug: laronidase | Patricia I. Dickson, M.D. | The Ryan Foundation;BioMarin Pharmaceutical;Rare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);University of Minnesota - Clinical and Translational Science Institute;University of California, Los Angeles | Not recruiting | 6 Years | N/A | Both | 9 | N/A | United States |
| 285 | NCT00813865 | May 11, 2009 | 20 August 2018 | A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients | An Open-Label, Multicenter, Long-Term Extension Study To Assess The Safety, Efficacy, And Pharmacodynamics Of AT2101 In Adult Patients With Type 1 Gaucher Disease | Gaucher Disease;Type 1 Gaucher Disease;Gaucher Disease, Type 1 | Drug: afegostat tartrate | Amicus Therapeutics | Not recruiting | 18 Years | N/A | All | 8 | Phase 2 | United States;United Kingdom;Paraguay | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 286 | EUCTR2007-001838-13-GB | 05/05/2009 | 20 March 2012 | Long-term safety study of AT1001 in people with Fabry disease | Open Label Extension Study to Evaluate the Long-term Safety Tolerability and Pharmacodynamics of AT1001 in Patients with Fabry Disease - Extension Study of AT1001 in Fabry Disease | Fabry Disease MedDRA version: 14.1 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: migalastat hydrochloride Product Code: AT1001 Pharmaceutical Form: Capsule, hard INN or Proposed INN: migalastat hydrochloride CAS Number: 75172-81-5 Current Sponsor code: AT1001 Other descriptive name: 1-deoxygalactonojirimycin hydrochloride Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 150- Product Name: Reminder capsules Pharmaceutical Form: Capsule, hard INN or Proposed INN: Not applicable Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 0- | Amicus Therapeutics, Inc. | Authorised | Female: yes Male: yes | 30 | United Kingdom;United States;Brazil;Australia | ||||
| 287 | NCT00872729 | May 2009 | 16 December 2017 | Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis | A Pilot Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103), Compared to Cysteamine Bitartrate (Cystagon®) in Patients With Nephropathic Cystinosis | Cystinosis | Drug: Cystagon®;Drug: RP103 | Horizon Pharma USA, Inc. | Not recruiting | N/A | N/A | All | 9 | Phase 1/Phase 2 | United States | |
| 288 | NCT00875160 | April 2009 | 19 February 2015 | A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101 | An Open-Label Study to Assess the Pharmacokinetics, Safety, and Pharmacodynamics of Repeated Doses of Orally Administered AT2101 in Adult Patients With Type 1 Gaucher Disease | Type 1 Gaucher Disease | Drug: AT2101 | Amicus Therapeutics | Not recruiting | 18 Years | 65 Years | Both | 1 | Phase 1 | United States;United Kingdom | |
| 289 | NCT00884949 | April 2009 | 19 October 2017 | A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA | A Phase 1/2, Multicenter, Open-label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) | MPS IV A | Drug: BMN 110 | BioMarin Pharmaceutical | Not recruiting | 5 Years | 18 Years | All | 20 | Phase 1/Phase 2 | United Kingdom | |
| 290 | EUCTR2008-007365-23-GB | 12/03/2009 | 19 March 2012 | A Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome) | A Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome) | Mucopolysaccharidosis Type IV A MedDRA version: 9.1 Level: LLT Classification code 10028095 Term: Mucopolysaccharidosis IV | Product Name: BMN 110 Pharmaceutical Form: Solution for infusion INN or Proposed INN: N/A CAS Number: N/A Current Sponsor code: rhGALNS Other descriptive name: recombinant human N-acetylgalactosamine 6-sulfatase, BMN 110 drug substance Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- | BioMarin Pharmaceutical Inc. | Not Recruiting | Female: yes Male: yes | Phase 1/2 | United Kingdom | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 291 | EUCTR2008-007158-36-GB | 25/02/2009 | 19 March 2012 | An open-label, multicentre, long-term extension study to assess the safety, efficacy and pharmacodynamics of AT2101 in adult patients with Type I Gaucher disease. | An open-label, multicentre, long-term extension study to assess the safety, efficacy and pharmacodynamics of AT2101 in adult patients with Type I Gaucher disease. | Type I Gaucher Disease MedDRA version: 9.1 Level: LLT Classification code 10018048 Term: Gaucher's disease | Product Name: afegostat tartrate Product Code: AT2101 Pharmaceutical Form: Capsule* INN or Proposed INN: afegostat tartrate CAS Number: 919364-56-0 Current Sponsor code: AT2101 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 25- | Amicus Therapeutics, Inc. | Not Recruiting | Female: yes Male: yes | 16 | United Kingdom | ||||
| 292 | EUCTR2007-005516-61-IT | 06/02/2009 | 19 March 2012 | Multicenter randomized study to assess the efficacy and the safety of two therapeutic regimens(high dose of imiglucerase versus co-administration of imiglucerase and miglustat) in type I Gaucher disease patients who have not responded to previous treatment with low dose imiglucerase - ND | Multicenter randomized study to assess the efficacy and the safety of two therapeutic regimens(high dose of imiglucerase versus co-administration of imiglucerase and miglustat) in type I Gaucher disease patients who have not responded to previous treatment with low dose imiglucerase - ND | GAUCHER disease MedDRA version: 9.1 Level: LLT Classification code 10018048 Term: Gaucher's disease | Trade Name: CEREZYME Pharmaceutical Form: Powder and solvent for solution for infusion INN or Proposed INN: Imiglucerase Concentration unit: U unit(s) Concentration type: equal Concentration number: 200- Trade Name: ZAVESCA Pharmaceutical Form: Capsule, hard INN or Proposed INN: Miglustat Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | ISTITUTO GIANNINA GASLINI | Not Recruiting | Female: yes Male: yes | Italy | |||||
| 293 | NCT01858103 | January 2009 | 19 February 2015 | BMN 110 US Expanded Access Program | A Multicenter, Open-label BMN 110 US Expanded Access Program (BMN 110 US EAP) to Provide BMN 110 to Patients Diagnosed With MPS IVA | Mucopolysaccharidosis IVA;Morquio A Syndrome;MPS IVA | Drug: BMN 110 | BioMarin Pharmaceutical | Not recruiting | N/A | N/A | Both | N/A | United States;Puerto Rico | ||
| 294 | NCT00712348 | December 2008 | 19 October 2017 | Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase | A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase in Patients With Gaucher Disease Treated With Imiglucerase | Gaucher Disease | Drug: Taliglucerase alfa | Protalix | Not recruiting | 2 Years | N/A | All | 31 | Phase 3 | United States;Australia;Canada;Israel;Spain;United Kingdom;Serbia | |
| 295 | NCT00748969 | November 2008 | 16 December 2017 | Clinical Trial of Growth Hormone in MPS I, II, and VI | Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature | Mucopolysaccharidosis I;Mucopolysaccharidosis II;Mucopolysaccharidosis VI | Drug: Somatropin (DNA origin) | Los Angeles Biomedical Research Institute | Not recruiting | 5 Years | 17 Years | All | 2 | Phase 2/Phase 3 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 296 | NCT00744692 | October 2008 | 19 October 2017 | Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders | A Pilot Study of Reduced Intensity Conditioning in Pediatric Patients <21 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood Transplantation | Non Malignant Disorders;Immunodeficiencies;Congenital Marrow Failures;Hemoglobinopathies;Inborn Errors of Metabolism;Sickle Cell;Thalassemia;Lysosomal Storage Disease | Biological: Unrelated Umbilical Cord Blood Transplant;Drug: Reduced Intensity Conditioning | Duke University | Not recruiting | N/A | 21 Years | All | 22 | Phase 1 | United States | |
| 297 | NCT00882921 | October 2008 | 19 October 2017 | An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients | A Multi-Center Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Enrolled in the Hunter Outcome Survey (HOS) Receiving Idursulfase Enzyme Replacement Therapy | Hunter Syndrome | Biological: Idursulfase | Shire | Not recruiting | 5 Years | N/A | Male | 26 | N/A | United States;Brazil;United Kingdom | |
| 298 | NCT01303146 | October 2008 | 19 February 2015 | Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation | and Safety of METAZYM (Recombinant Human Arylsulfatase A or rhASA) for the Treatment of Patients With Late Infantile MLD Who Had Previously Hematopoietic Stem Cell Transplantation | Metachromatic Leukodystrophy | Drug: rhARSA | Assistance Publique - Hôpitaux de Paris | European Leukodystrophy Association;Zymenex A/S;Shire | Not recruiting | 6 Months | N/A | Both | 1 | Phase 2 | France |
| 299 | NCT00741338 | September 2008 | 19 October 2017 | Immune Tolerance Study With Aldurazyme® (Laronidase) | A Trial of Antigen-specific Immune Tolerance Induction in Mucopolysaccharidosis I (MPS I) Patients Initiating Enzyme Replacement Therapy With Aldurazyme® (Laronidase) | Mucopolysaccharidosis I | Biological: Laronidase;Drug: Cyclosporine A (CsA);Drug: Azathioprine (Aza) | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Not recruiting | N/A | 5 Years | All | 7 | Phase 1/Phase 2 | Brazil;Russian Federation;Ukraine |
| 300 | EUCTR2007-005668-28-GB | 29/07/2008 | 4 August 2015 | A study to assess two alternative dosing regimens of Fabrazyme (agalsidase beta) in boys with Fabry disease who have never received any specific treatment for this disease and who do not have severe symptoms of the disease. | A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms - FIELD (Fabrazyme: Intervening Early at a Lower Dose) | Fabry disease MedDRA version: 14.1 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Fabrazyme Product Name: Fabrazyme Product Code: Agalsidase beta Pharmaceutical Form: Powder for concentrate for solution for infusion INN or Proposed INN: agalsidase beta CAS Number: 104138-64-9 Current Sponsor code: r-h-alpha-GAL Other descriptive name: recombinant human alpha-galactosidase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 5 after reconstit- | Genzyme Europe BV | Not Recruiting | Female: no Male: yes | 35 | Phase 3B | France;Portugal;United States;Czech Republic;Canada;Argentina;Brazil;Poland;Germany;Netherlands;Norway;United Kingdom | |||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 301 | EUCTR2007-005543-22-CZ | 19/06/2008 | 4 February 2013 | An investigation of 3 dosages of Replagal in adult patients with Fabry disease | A Multi-center, Open-Label, Randomized Study Evaluating the Safety and Efficacy of Three Dosing Regimens of Replagal Enzyme Replacement Therapy in Adult Patients with Fabry Disease | Fabry Disease MedDRA version: 14.1 Level: PT Classification code 10016016 Term: Fabry's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Trade Name: Replagal Product Name: Replagal Pharmaceutical Form: Solution for infusion INN or Proposed INN: agalsidase alpha Other descriptive name: Replagal Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- | Shire Human Genetic Therapies, Inc. (Shire HGT) | Not Recruiting | Female: yes Male: yes | 43 | United States;Czech Republic;Slovenia;Paraguay;Finland;Australia;United Kingdom | ||||
| 302 | NCT00446550 | June 11, 2008 | 20 August 2018 | A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease | A Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type 1 Gaucher Disease | Gaucher Disease;Type 1 Gaucher Disease;Gaucher Disease, Type 1 | Drug: afegostat tartrate | Amicus Therapeutics | Not recruiting | 18 Years | 74 Years | All | 19 | Phase 2 | United States;Israel;South Africa;United Kingdom;Germany | |
| 303 | NCT00705939 | June 2008 | 19 October 2017 | Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial | A Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease | Gaucher Disease | Drug: Taliglucerase alfa | Protalix | Not recruiting | 18 Years | N/A | All | 45 | Phase 3 | United States;Australia;Canada;Chile;Israel;South Africa;Spain;United Kingdom | |
| 304 | EUCTR2007-007164-20-ES | 20/05/2008 | 1 May 2012 | Uso racional de los tratamientos por inhibición de sustrato y enzimático sustitutivo en pacientes con Enfermedad de Gaucher tipo 1 | Uso racional de los tratamientos por inhibición de sustrato y enzimático sustitutivo en pacientes con Enfermedad de Gaucher tipo 1 | Tratamiento de la enfermedad de Gaucher MedDRA version: 9.1 Level: LLT Classification code 10018048 Term: Gaucher's disease | Trade Name: CEREZYME Pharmaceutical Form: Intravenous infusion INN or Proposed INN: IMIGLUCERASA Concentration unit: U/ml unit(s)/millilitre Concentration type: equal Concentration number: 40- Trade Name: MIGLUSTAT (ZAVESCA) Pharmaceutical Form: Oral drops* INN or Proposed INN: MIGLUSTAT Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD | Not Recruiting | Female: yes Male: yes | Spain | |||||
| 305 | EUCTR2008-000084-41-DK | 15/05/2008 | 22 April 2013 | A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD) | A multi-center open label extension study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) treatment in patients with Late Infantile Metachromatic Leukodystrophy (MLD) | Metachromatic Leukodystrophy (MLD) in late infantile patients MedDRA version: 9.1 Level: LLT Classification code 10024381 Term: Leukodystrophy | Product Name: HGT-1111 Product Code: rhASA Pharmaceutical Form: Injection* INN or Proposed INN: Not available CAS Number: NA Current Sponsor code: HGT-1111 Other descriptive name: recombinant human arylsulfatase A Concentration unit: mg/ml milligram(s)/millilitre Concentration type: range Concentration number: 4.6-5.6 | Shire Human Genetic Therapies Inc | Not Recruiting | Female: yes Male: yes | France;Belgium;Denmark;Italy | |||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 306 | EUCTR2007-000498-42-GB | 08/05/2008 | 18 April 2012 | A Phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease - NA | A Phase III Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients with Gaucher Disease - NA | Gaucher disease MedDRA version: 9.1 Level: PT Classification code 10018048 Term: Gaucher's disease | Product Name: recombinant human glucocerebrosidase Product Code: prGCD Pharmaceutical Form: Powder for solution for infusion Current Sponsor code: prGCD Other descriptive name: recombinant human glucocerebrosidase Concentration unit: U unit(s) Concentration type: equal Concentration number: 200- Product Name: recombinant human glucocerebrosidase Product Code: prGCD Pharmaceutical Form: Powder for solution for infusion Current Sponsor code: prGCD Other descriptive name: recombinant human glucocerebrosidase Concentration unit: U unit(s) Concentration type: equal Concentration number: 200- | Protalix Biotherapeutics | Authorised | Female: yes Male: yes | 30 | Phase 3 | United Kingdom;Spain;Italy | |||
| 307 | NCT00635427 | May 2008 | 19 October 2017 | An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease | An Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease | Gaucher Disease, Type 1 | Biological: VPRIV® | Shire | Not recruiting | 2 Years | N/A | All | 95 | Phase 3 | United States;Argentina;India;Israel;Korea, Republic of;Paraguay;Poland;Russian Federation;Spain;Tunisia;United Kingdom | |
| 308 | NCT00679744 | May 2008 | 19 February 2015 | A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis | A Dose-Escalated, Double-Blind, Placebo-Controlled, Randomized Phase I Clinical Trial of Pyrimethamine in Patients Affected With Chronic GM2 Gangliosidosis (Tay-Sachs or Sandhoff Variants) | G(M2) Ganglioside;Tay-Sachs Disease Ganglioside;Sandhoff Disease Ganglioside | Drug: Pyrimethamine | Exsar Corporation | University Hospital Case Medical Center;New York University School of Medicine;The Hospital for Sick Children | Not recruiting | 18 Years | N/A | Both | 0 | Phase 1 | United States;Canada |
| 309 | NCT00668564 | March 2008 | 19 October 2017 | Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism | Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation | Hurler's Syndrome;Maroteaux-Lamy Syndrome;Sly Syndrome;Alpha Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Sphingolipidoses;Krabbe Disease;Wolman's Disease;Niemann-Pick Disease Type B;Niemann-Pick Disease, Type C | Procedure: Stem Cell Transplantation;Drug: Cyclophosphamide;Drug: Campath-1H;Drug: Busulfan | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | 21 Years | All | 18 | Phase 2 | United States | |
| 310 | EUCTR2007-007165-20-DK | 26/02/2008 | 3 April 2017 | A single center, open-label, non-randomized, uncontrolled, multiple-dose study of the efficacy and safety of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of MLD patients with high residual level of voluntary function | A single center, open-label, non-randomized, uncontrolled, multiple-dose study of the efficacy and safety of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of MLD patients with high residual level of voluntary function | Metachromatic Leukodystrophy (MLD) in late infantile patients MedDRA version: 9.1 Level: LLT Classification code 10024381 Term: Leukodystrophy | Product Name: Metazym Product Code: rhASA Pharmaceutical Form: Injection* Current Sponsor code: rhASA Other descriptive name: recombinant human arylsulfatase A Concentration unit: U unit(s) Concentration type: up to Concentration number: 200- | Shire Pharmaceuticals Ireland Limited | Authorised | Female: yes Male: yes | Phase 2 | Denmark | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 311 | EUCTR2007-006024-35-FR | 04/02/2008 | 23 December 2013 | Adaptive dose regimen of Cystadrops for cOrneal Crystal deposiTs and ocular manifestations in nephropathic cystinosis : an open label, dose-response pilot study - CYSTADROPS OCT-1 pilot study | Adaptive dose regimen of Cystadrops for cOrneal Crystal deposiTs and ocular manifestations in nephropathic cystinosis : an open label, dose-response pilot study - CYSTADROPS OCT-1 pilot study | Nephropathic cystinotic patients with cystine crystals corneal deposits MedDRA version: 9.1 Level: SOC Classification code 10010331 Term: Congenital, familial and genetic disorders | Product Name: CYSTADROPS Pharmaceutical Form: Eye drops* INN or Proposed INN: cysteamine hydrochloride CAS Number: 156-57-0 Other descriptive name: mercaptamine, mercamine, 2-aminoethanethiol Concentration unit: % percent Concentration type: equal Concentration number: 0.55- | Orphan Europe SARL | Not Recruiting | Female: yes Male: yes | France | |||||
| 312 | NCT00638547 | January 2, 2008 | 18 December 2018 | Intrathecal Enzyme Replacement for Hurler Syndrome | Intrathecal Enzyme Replacement Therapy For Patients With Mucopolysaccharidosis Type I (Hurler Syndrome) | Hurler Syndrome | Drug: IRT Laronidase | Masonic Cancer Center, University of Minnesota | Not recruiting | 6 Months | 3 Years | All | 26 | Phase 1 | United States | |
| 313 | NCT00786968 | January 2008 | 19 February 2015 | Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I | An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I | Spinal Cord Compression;Mucopolysaccharidosis I;Hurler-Scheie Syndrome;Scheie Syndrome;Lysosomal Storage Disease | Drug: laronidase | Patricia I. Dickson, M.D. | The Ryan Foundation for MPS Children | Not recruiting | 8 Years | N/A | Both | 3 | Phase 1 | United States;Finland |
| 314 | NCT01760564 | January 2008 | 19 February 2015 | Application of Miglustat in Patients With Niemann-Pick Type C | Application of Miglustat in Patients With Niemann-Pick Type C | Niemann-Pick Disease Type C | Drug: Miglustat | National Taiwan University Hospital | Not recruiting | N/A | N/A | Both | 5 | Phase 3 | Taiwan | |
| 315 | EUCTR2007-003359-35-GB | 19/12/2007 | 19 March 2012 | A RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101 IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASE | A RANDOMIZED, OPEN-LABEL STUDY TO ASSESS THE SAFETY AND TOLERABILITY OF AT2101 IN TREATMENT-NAIVE ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASE | Type 1 Gaucher Disease | Product Name: Isofagamine tartrate Product Code: AT2101 Pharmaceutical Form: Capsule, hard | Amicus Therapeutics, Inc. | Not Recruiting | Female: yes Male: yes | 16 | Germany;United Kingdom | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 316 | NCT00607386 | December 2007 | 19 October 2017 | Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy | A Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy | Hunter Syndrome;Mucopolysaccharidosis II;MPS II | Biological: Idursulfase | Shire | Covance;PharmaNet;PRA Health Sciences | Not recruiting | N/A | 5 Years | Male | 28 | Phase 4 | Brazil;Poland;Taiwan |
| 317 | EUCTR2007-002840-21-ES | 30/10/2007 | 19 March 2012 | A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher Disease Estudio multicéntrico, aleatorizado, a doble ciego, en grupos paralelos sobre la terapia de reemplazo enzimático con Gene-Activated® glucocerebrosidasa humana (GA-GCB) en comparación con imiglucerasa en pacientes con enfermedad de Gaucher de tipo 1 - GCB039 | A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared with Imiglucerase in Patients with Type I Gaucher Disease Estudio multicéntrico, aleatorizado, a doble ciego, en grupos paralelos sobre la terapia de reemplazo enzimático con Gene-Activated® glucocerebrosidasa humana (GA-GCB) en comparación con imiglucerasa en pacientes con enfermedad de Gaucher de tipo 1 - GCB039 | Type I Gaucher disease Enfermedad de Gaucher tipo 1 MedDRA version: 9.1 Level: LLT Classification code 10018048 Term: Gaucher's disease | Product Name: Gene Activated Human glucocerebrosidase Product Code: GA-GCB Pharmaceutical Form: Powder for infusion* Current Sponsor code: GA-GCB Other descriptive name: Gene activated human glucocerebrosidase Concentration unit: IU/ml international unit(s)/millilitre Concentration type: equal Concentration number: 100- Trade Name: Cerezyme Pharmaceutical Form: Powder for infusion* INN or Proposed INN: IMIGLUCERASE CAS Number: 154248972 | Shire Human Genetic Therapies Inc | Authorised | Female: yes Male: yes | 32 | United Kingdom;Spain;Italy | ||||
| 318 | NCT00526071 | September 17, 2007 | 9 October 2018 | Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study | Open-label Extension Study to Evaluate the Long-term Safety, Tolerability and Pharmacodynamics of AT1001 in Patients With Fabry Disease | Fabry Disease | Drug: migalastat HCl | Amicus Therapeutics | Not recruiting | 18 Years | N/A | All | 23 | Phase 2 | United States;Australia;Brazil;France;United Kingdom | |
| 319 | NCT00376168 | August 2007 | 19 October 2017 | A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease | A Phase III, Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease | Gaucher Disease | Drug: Plant cell expressed recombinant glucocerebrosidase (prGCD) | Protalix | Not recruiting | 18 Years | N/A | All | 32 | Phase 3 | United States;Canada;Chile;Israel;Italy;South Africa;Spain;United Kingdom | |
| 320 | EUCTR2006-006304-11-GB | 03/07/2007 | 3 April 2012 | A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase - TKT034 | A multicenter open-label study of Gene-Activated Human Glucocerebrosidase (GA-GCB) enzyme replacement therapy in patients with type 1 Gaucher disease previously treated wiht imiglucerase - TKT034 | Type I Gaucher Disease MedDRA version: 9.1 Level: LLT Classification code 10018048 Term: Gaucher's disease | Product Name: Gene-Activated Human Glucocerebrosidase Product Code: GA-GCB Pharmaceutical Form: Powder for solution for infusion Current Sponsor code: GA-GCB Other descriptive name: Gene activated human glucocerebrosidase Concentration unit: IU/ml international unit(s)/millilitre Concentration type: equal Concentration number: 100- | Shire Human Genetic Therapies Inc | Authorised | Female: yes Male: yes | 40 | United Kingdom;Spain;Italy | ||||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 321 | EUCTR2007-001453-26-NL | 02/07/2007 | 19 March 2012 | Natural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme. | Natural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme. | Mucopolysaccharidosis type I, II and VI. MedDRA version: 12.0 Level: LLT Classification code 10028095 Term: Mucopolysaccharidosis IV MedDRA version: 12.0 Level: LLT Classification code 10056886 Term: Mucopolysaccharidosis I MedDRA version: 12.0 Level: PT Classification code 10056889 Term: Mucopolysaccharidosis II | Trade Name: Elaprase Product Name: idursulfase Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: IDURSULFASE CAS Number: 50936-59-9 Other descriptive name: Elaprase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- Trade Name: Naglazyme Product Name: Naglazyme Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: GALSULFASE CAS Number: 552858-79-4 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- Trade Name: Aldurazyme Product Name: Aldurazyme Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: LARONIDASE CAS Number: 210589-09-6 Other descriptive name: Aldurazyme Concentration unit: IU/ml international unit(s)/millilitre Concentration type: equal Concentration number: 100- | Authorised | Female: yes Male: yes | 50 | Netherlands | |||||
| 322 | NCT00683189 | June 2007 | 19 February 2015 | Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy | Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy | Metachromatic Leukodystrophy | Drug: Warfarin | The Cooper Health System | Not recruiting | 1 Year | 10 Years | Both | 10 | N/A | United States | |
| 323 | EUCTR2005-003512-30-FR | 05/04/2007 | 19 March 2012 | A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme (galsulfase) in Infants with Maroteaux-Lamy Syndrome (MPS VI) - N/A | A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme (galsulfase) in Infants with Maroteaux-Lamy Syndrome (MPS VI) - N/A | Mucopolysaccharidosis Type VI (MPS VI; Maroteaux-Lamy Syndrome) MedDRA version: 6.0 Level: PT Classification code 10056892 | Trade Name: Naglazyme Product Name: Naglazyme Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: galsulfase CAS Number: 552858-79-4 Other descriptive name: recombinant human Arysulfatase B, recombinant human N-acetylgalactosamine 4-sulfatase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1.0- | BioMarin Pharmaceutical Inc. | Authorised | Female: yes Male: yes | 4 | Phase 4 | Portugal;France | |||
| 324 | EUCTR2006-005216-27-FI | 26/03/2007 | 19 March 2012 | Selkäytimeen annettu entsyymikorvaus mukopolysakkaridoosi I:n selkäytimen puristuman hoidossa. Kansainvälinen monikeskustutkimus. A study of intrathecal enzyme replacement therapy for spinal cord compression in mucopolysaccharidosis I, MIRC-001. - Intrathecal enzyme replacement in MPS I | Selkäytimeen annettu entsyymikorvaus mukopolysakkaridoosi I:n selkäytimen puristuman hoidossa. Kansainvälinen monikeskustutkimus. A study of intrathecal enzyme replacement therapy for spinal cord compression in mucopolysaccharidosis I, MIRC-001. - Intrathecal enzyme replacement in MPS I | Mucopolysaccharidosis I H/S, lysosomal storage disease with clinical manifestations such as progressive joint stiffness, growth retardation, corneal clouding, hepatosplenomegaly, cardiac and respiratory dysfunction, and in severe fore, mental retardation MedDRA version: 9.1 Level: LLT Classification code 10056887 Term: Mucopolysaccharidosis IH/S | Trade Name: Aldurazyme Pharmaceutical Form: Other descriptive name: LARONIDASE | HUS, Hospital for Children and Adolescents | Authorised | Female: yes Male: yes | 10 | Finland | ||||
| 325 | NCT00433147 | March 23, 2007 | 20 August 2018 | A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy | A Randomized, Open-label Study to Assess the Safety and Tolerability of Multiple Dose Levels and Multiple Dosing Regimens of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy | Gaucher Disease, Type 1;Type 1 Gaucher Disease;Gaucher Disease | Drug: Afegostat tartrate | Amicus Therapeutics | Not recruiting | 18 Years | 74 Years | All | 30 | Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 326 | NCT00446862 | March 2007 | 19 February 2015 | The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study | Multi-center, Open-label Study of the Safety and Efficacy of Control of Proteinuria With ACE Inhibitors and ARBS in Patients With Fabry Disease Who Are Receiving Fabrazyme®: The FAACET Study | Fabry Disease;Proteinuria | Drug: enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers | University of Alabama at Birmingham | Not recruiting | 19 Years | 85 Years | Both | 36 | N/A | United States;Slovenia;Germany | |
| 327 | NCT00430625 | January 2007 | 19 October 2017 | A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease | A Multicenter, Randomized, Double-Blind, Parallel Group, Two-Dose Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease | Gaucher Disease, Type 1 | Biological: VPRIV ®, | Shire | Not recruiting | 2 Years | N/A | All | 25 | Phase 3 | Argentina;Israel;Paraguay;Russian Federation;Tunisia;United States | |
| 328 | EUCTR2006-005341-11-DK | 28/12/2006 | 19 March 2012 | A single center, open-label, non-randomized, uncontrolled, multiple-dose, dose escalation study of the safety, pharmacokinetics and efficacy of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of patients with late infantile metachromatic leukodystrophy (MLD) | A single center, open-label, non-randomized, uncontrolled, multiple-dose, dose escalation study of the safety, pharmacokinetics and efficacy of Metazym (recombinant human arylsulfatase A or rhASA) for the treatment of patients with late infantile metachromatic leukodystrophy (MLD) | Late infantile metachromatic leukodystrophy (MLD) MedDRA version: 9.1 Level: LLT Classification code 10024381 Term: Leukodystrophy | Product Name: Metazym Product Code: rhASA Pharmaceutical Form: Injection* INN or Proposed INN: Arylsulfatase A Current Sponsor code: rhASA Other descriptive name: Metazym Concentration unit: IU/ml international unit(s)/millilitre Concentration type: not less then Concentration number: 125- | Shire Pharmaceuticals Ireland Limited | Not Recruiting | Female: yes Male: yes | 12 | Denmark | ||||
| 329 | EUCTR2006-004661-34-FR | 08/12/2006 | 19 March 2012 | Evaluation d’un traitement par miglustat (Zavesca®) chez les patients atteints de mucopolysaccharidose de type III (maladie de Sanfilippo). Essai thérapeutique de phase IIb randomisé en aveugle contre placebo. - ZAV-MPSIII 2006 | Evaluation d’un traitement par miglustat (Zavesca®) chez les patients atteints de mucopolysaccharidose de type III (maladie de Sanfilippo). Essai thérapeutique de phase IIb randomisé en aveugle contre placebo. - ZAV-MPSIII 2006 | Mucopolysaccharidose de type III MedDRA version: 8.1 Level: LLT Classification code 10056890 Term: Mucopolysaccharidosis III | Trade Name: ZAVESCA Product Name: ZAVESCA Pharmaceutical Form: Capsule, hard INN or Proposed INN: miglustat Other descriptive name: MIGLUSTAT Concentration unit: mg/g milligram(s)/gram Concentration type: equal Concentration number: 100- Pharmaceutical form of the placebo: Capsule, hard Route of administration of the placebo: Oral use | HOSPICES CIVILS DE LYON | Authorised | Female: yes Male: yes | 24 | Phase 2b | France | |||
| 330 | NCT00410566 | December 2006 | 30 March 2015 | Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) | A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) | Acid Sphingomyelinase Deficiency;Niemann-Pick Disease | Drug: rhASM | Genzyme, a Sanofi Company | Not recruiting | 18 Years | 65 Years | Both | 11 | Phase 1 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 331 | EUCTR2006-005842-35-IT | 22/11/2006 | 3 April 2012 | Efficacy and safety of treatment with N-butyl-deoxynojirimycin (NB-DNJ-miglustat) in patients with Niemann-Pick disease type C. - ND | Efficacy and safety of treatment with N-butyl-deoxynojirimycin (NB-DNJ-miglustat) in patients with Niemann-Pick disease type C. - ND | NIEMANN-PICK DISEASE TYPE C MedDRA version: 9.1 Level: LLT Classification code 10029403 | Trade Name: ZAVESCA Pharmaceutical Form: Capsule, hard INN or Proposed INN: Miglustat Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | Dipartimento di Pediatria Universita` di Napoli Federico II | Authorised | Female: yes Male: yes | Italy | |||||
| 332 | NCT00304512 | September 7, 2006 | 9 October 2018 | A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease | A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients With Fabry Disease | Fabry Disease | Drug: migalastat HCl | Amicus Therapeutics | Not recruiting | 18 Years | 65 Years | Female | 9 | Phase 2 | United States;Australia;Brazil;Canada;France;United Kingdom | |
| 333 | NCT00383448 | September 2006 | 22 July 2019 | HSCT for High Risk Inherited Inborn Errors | Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation | Adrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Tay Sachs Disease;Sandhoffs Disease;Wolman Disease;I-Cell Disease;Sanfilippo Syndrome;GM1 Gangliosidosis | Drug: Clofarabine;Procedure: Total body Irradiation;Drug: Melphalan;Biological: Hematopoietic Stem Cell Transplantation;Drug: Alemtuzumab;Drug: mycophenylate mofetil;Device: Cyclosporine A;Drug: Hydroxyurea | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | 70 Years | All | 38 | Phase 2 | United States | |
| 334 | NCT00358150 | June 2006 | 19 October 2017 | A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients | A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients | Gaucher Disease, Type 1;Cerebroside Lipidosis Syndrome;Glucocerebrosidase Deficiency Disease;Glucosylceramide Beta-Glucosidase Deficiency Disease;Gaucher Disease, Non-Neuronopathic Form | Drug: Eliglustat tartrate | Genzyme, a Sanofi Company | Not recruiting | 18 Years | 65 Years | All | 26 | Phase 2 | United States;Argentina;Israel;Italy;Mexico;Russian Federation | |
| 335 | NCT00230607 | May 28, 2006 | 16 December 2017 | Study of the Effects of Fabrazyme Treatment on Lactation and Infants | A Multicenter, Multinational Study of the Effects of Fabrazyme (Agalsidase Beta) Treatment on Lactation and Infants | Fabry Disease;Alpha Galactosidase A Deficiency | Drug: agalsidase beta | Genzyme, a Sanofi Company | Recruiting | N/A | N/A | All | 20 | Phase 4 | United States;Austria;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 336 | NCT00299000 | May 2006 | 19 October 2017 | A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI | A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With Maroteaux-Lamy Syndrome (MPS VI) | Mucopolysaccharidosis VI;Maroteaux-Lamy Syndrome | Drug: Naglazyme | BioMarin Pharmaceutical | Not recruiting | N/A | 1 Year | All | 4 | Phase 4 | United States;France;Portugal | |
| 337 | NCT00337636 | May 2006 | 19 February 2015 | Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) | A Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells (HuCNS-SC) in Patients With Neuronal Ceroid Lipofuscinosis Caused by Palmitoyl Protein Thioesterase 1 (PPT1) or Tripeptidyl Peptidase 1 (TPP-I) Deficiency | Neuronal Ceroid Lipofuscinosis | Procedure: Surgery to implant human CNS stem cells (HuCNS-SC);Drug: Medication to suppress the immune system | StemCells, Inc. | Not recruiting | 18 Months | 12 Years | Both | 6 | Phase 1 | United States | |
| 338 | NCT00312767 | April 2006 | 19 February 2015 | A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. | A Multicenter, Open-Label, Cross-Over Trial to Evaluate the Pharmacokinetics of Fabrazyme During Simultaneous Fabrazyme Infusion and Chronic Hemodialysis in Patients With Fabry Disease. | Fabry Disease | Drug: Fabrazyme (agalsidase beta) | Genzyme, a Sanofi Company | Not recruiting | 18 Years | 65 Years | Both | 0 | Phase 4 | United States | |
| 339 | EUCTR2006-000181-36-GB | 17/03/2006 | 19 March 2012 | A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients with Fabry Disease - Phase 2 Study of AT1001 in Female Patients with Fabry Disease | A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients with Fabry Disease - Phase 2 Study of AT1001 in Female Patients with Fabry Disease | Fabry disease MedDRA version: 8.1 Level: LLT Classification code 10016016 | Product Name: 1-deoxygalactonojirimycin hydrochloride Product Code: AT1001 Pharmaceutical Form: Capsule, hard INN or Proposed INN: migalastat hydrochloride CAS Number: 75172-81-5 Current Sponsor code: AT1001 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 25- | Amicus Therapeutics, Inc. | Authorised | Female: yes Male: no | 12 | Phase 2 | United Kingdom | |||
| 340 | NCT00283959 | March 2006 | 19 February 2015 | A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease | A Phase 2, Open-Label, Single Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry Disease | Fabry Disease | Drug: AT1001 (migalastat hydrochloride) | Amicus Therapeutics | Not recruiting | 18 Years | 65 Years | Male | 8 | Phase 2 | Australia;Brazil | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 341 | NCT00286689 | February 3, 2006 | 18 December 2018 | Effects of Growth Hormone in Chronically Ill Children | Hurler Syndrome;Cerebral Palsy;Juvenile Rheumatoid Arthritis;Crohn Disease;HIV Infections | Drug: Growth Hormone;Procedure: Whole body Protein turnover;Procedure: DEXA scan | University of Texas Southwestern Medical Center | Not recruiting | 3 Years | 17 Years | All | 0 | N/A | United States | ||
| 342 | NCT00319046 | February 2006 | 19 October 2017 | Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease | Open-label, Non Comparative, Multi-center Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Oral Miglustat as a Maintenance Therapy After a Switch From Enzyme Replacement Therapy in Adult Patients With Stable Type 1 Gaucher Disease | Type 1 Gaucher Disease | Drug: miglustat | Actelion | Not recruiting | 18 Years | N/A | All | 42 | Phase 3 | United States;Australia;Brazil;Canada;Czech Republic;France;Germany;Hungary;Italy;Netherlands;Spain;Taiwan;United Kingdom | |
| 343 | NCT00283933 | January 2006 | 22 January 2018 | A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease | A Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry Disease | Fabry Disease | Drug: AT1001 (migalastat hydrochloride) | Amicus Therapeutics | Not recruiting | 18 Years | 65 Years | Male | 5 | Phase 2 | Canada;France;United Kingdom | |
| 344 | EUCTR2005-004384-33-GB | 19/12/2005 | 18 April 2012 | A Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients with Fabry Disease - Phase 2 study of AT1001 in Fabry Disease | A Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients with Fabry Disease - Phase 2 study of AT1001 in Fabry Disease | Fabry Disease MedDRA version: 8.1 Level: LLT Classification code 10016016 | Product Name: 1- Deoxygalactonojirimycin Product Code: AT1001 Pharmaceutical Form: Capsule, hard INN or Proposed INN: N/A CAS Number: 75172-81-5 Current Sponsor code: AT1001 Other descriptive name: Migalastat hydrochloride Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 25- | Amicus Therapeutics | Authorised | Female: no Male: yes | 8 | Phase 2 | United Kingdom | |||
| 345 | NCT00258011 | December 2005 | 19 October 2017 | Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease | A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients | Mucopolysaccharidosis I;Hurler Syndrome;Hurler-Scheie Syndrome;Scheie Syndrome | Biological: Aldurazyme (Recombinant Human Alpha-L-Iduronidase) | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Not recruiting | N/A | N/A | All | 3 | Phase 3 | Japan |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 346 | NCT00215527 | November 2005 | 19 February 2015 | Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I | A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I | Mucopolysaccharidosis I;Lysosomal Storage Diseases;Spinal Cord Compression | Drug: laronidase | Patricia I. Dickson, M.D. | Ryan Foundation for MPS Children;University of California, Los Angeles;FDA Office of Orphan Products Development | Not recruiting | 8 Years | N/A | Both | 4 | Phase 1 | United States;Finland |
| 347 | NCT00258778 | November 2005 | 19 February 2015 | Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD) | A Phase I, Non-Randomized, Open Label, Single Dose-Escalation Safety Study of Recombinant Human Glucocerebrosidase (prGCD) in Healthy Volunteers | Gaucher Disease | Drug: Human Glucocerebrosidase (prGCD) | Protalix | Not recruiting | 18 Years | 45 Years | Both | 6 | Phase 1 | Israel | |
| 348 | EUCTR2005-001651-37-GB | 27/10/2005 | 18 September 2012 | A phase IV, open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement Therapy (ERT) in adult patients with stable Type 1 Gaucher Disease | A phase IV, open-label, non comparative, multi-center study to evaluate the long term efficacy and safety and tolerability of oral miglustat as a maintenance after a switch from Enzyme Replacement Therapy (ERT) in adult patients with stable Type 1 Gaucher Disease | Gaucher disease is the most common of the glycosphingolipid storage diseases and has autosomal recessive inheritance. For a more precise description, please refer to page 16 of the protocol: 1 BACKGROUND AND RATIONALE 1.1 Disease | Trade Name: Zavesca Product Name: Miglustat Product Code: OGT918 Pharmaceutical Form: Capsule, hard INN or Proposed INN: miglustat CAS Number: 72599-27-0 Current Sponsor code: OGT918 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 100- | Actelion Pharmaceuticals Ltd | Authorised | Female: yes Male: yes | 50 | Phase 4 | Hungary;Czech Republic;Germany;United Kingdom;Spain;Italy | |||
| 349 | NCT00214500 | September 2005 | 25 May 2015 | A Study of AT1001 in Patients With Fabry Disease | A Phase 2, Open-Label, Multicenter, Ascending-Dose, 12-Week Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AT1001 in Patients With Fabry Disease | Fabry Disease | Drug: AT1001 (migalastat hydrochloride) | Amicus Therapeutics | Not recruiting | 18 Years | 55 Years | Male | 14 | Phase 2 | United States | |
| 350 | NCT00140621 | July 2005 | 19 October 2017 | A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease | A Multicenter Open-label Study of the Safety and Efficacy of a-galactosidase A (R-h a-GAL) Replacement Therapy in Patients With Cardiac Fabry Disease | Fabry Disease | Drug: Agalsidase beta | Genzyme, a Sanofi Company | Not recruiting | 20 Years | 64 Years | All | 6 | Phase 4 | Japan | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 351 | NCT00487630 | June 2005 | 19 February 2015 | Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease | A Multicenter, Phase 4, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Recombinant Alpha-Galactosidase A (Agalsidase Beta, FABRAZYME) in Heterozygous Females for Fabry Disease | Fabry Disease | Drug: recombinant alpha-galactosidase A | Assistance Publique - Hôpitaux de Paris | Recruiting | 15 Years | N/A | Female | 34 | Phase 4 | France | |
| 352 | NCT00391625 | February 2005 | 19 October 2017 | Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) | An Open-Label Extension of Study TKT025 Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A Enzyme Replacement Therapy | Gaucher Disease | Drug: GA-GCB | Shire | Not recruiting | 18 Years | N/A | All | 10 | Phase 1/Phase 2 | Israel;Romania;Serbia;Former Serbia and Montenegro | |
| 353 | EUCTR2004-002743-27-DE | 23/12/2004 | 19 March 2012 | An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy | An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy | Mucopolysaccharidosis Type II (MPS II or Hunter Syndrome) MedDRA version: 6.1 Level: PT Classification code 10056889 | Product Name: Idursulfase (I2S) Pharmaceutical Form: Concentrate for solution for infusion Current Sponsor code: DRX006A Other descriptive name: Idursulfase Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2- | Shire Human Genetic Therapies INC. | Not Recruiting | Female: no Male: yes | 96 | United Kingdom;Germany;Spain;Italy;Sweden | ||||
| 354 | NCT00144781 | December 2004 | 19 October 2017 | A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease | A Multicenter, Multinational, Randomized, Dose-Optimization Study of the Safety and Pharmacodynamic Response of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I | Mucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;Scheie Syndrome | Biological: Aldurazyme (Recombinant Human Alpha-L-Iduronidase) | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Not recruiting | N/A | N/A | All | 34 | Phase 4 | Brazil;Canada |
| 355 | NCT00097890 | November 2004 | 19 February 2015 | Replagal Enzyme Replacement Therapy for Adults With Fabry Disease | An Open Label Six-Month Maintenance Clinical Trial of Replagal Enzyme Replacement Therapy in Patients With Fabry Disease Who Have Completed TKT027 | Fabry Disease | Drug: Replagal (Agalsidase Alfa);Drug: Replagal | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | N/A | N/A | Male | 25 | Phase 4 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 356 | EUCTR2004-000772-14-CZ | 23/07/2004 | 7 October 2014 | A Phase I-II Pharmacokinetic/Pharmacodynamic Study of Replagal to Assess the Effects of Alternative Dose and Regimen in Patients with Fabry Disease (TKT027) - TKT027 | A Phase I-II Pharmacokinetic/Pharmacodynamic Study of Replagal to Assess the Effects of Alternative Dose and Regimen in Patients with Fabry Disease (TKT027) - TKT027 | Fabry Disease MedDRA version: 6.1 Level: PT Classification code 10016016 | Trade Name: Replagal Product Name: Replagal Pharmaceutical Form: Concentrate for solution for infusion INN or Proposed INN: agalsidase alfa Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 1- | TKT Inc | Not Recruiting | Female: no Male: yes | 20 | Phase 1 | Czech Republic | |||
| 357 | NCT00144768 | July 2004 | 19 February 2015 | A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients | A Multicenter, Multinational, Open-Label Study of Anti-Laronidase Antibody Formation and Urinary GAG Levels in Patients With Mucopolysaccharidosis I (MPS I) Being Treated With Aldurazyme® (Laronidase). | Mucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;Scheie's Syndrome | Drug: laronidase | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Not recruiting | N/A | N/A | Both | 25 | Phase 4 | United States |
| 358 | NCT00418847 | July 2004 | 30 May 2016 | Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis | Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses | Gangliosidoses GM2 | Drug: miglustat | The Hospital for Sick Children | Actelion | Not recruiting | 6 Years | 20 Years | Both | 5 | Phase 2 | Canada |
| 359 | NCT00672022 | July 2004 | 19 February 2015 | Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses | Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset GM2 Gangliosidosis: Single and Steady State Oral Doses | GM2 Gangliosidoses;Tay-Sachs;Sandhoff Disease | Drug: Zavesca (Miglustat) | Children's Research Institute | Actelion | Not recruiting | 6 Months | 5 Years | Both | 10 | Phase 3 | United States |
| 360 | NCT00084084 | June 2004 | 19 October 2017 | Replagal Enzyme Replacement Therapy for Children With Fabry Disease | An Open Label Clinical Trial of Replagal Enzyme Replacement Therapy In Children With Fabry Disease Who Have Completed Study TKT023 or Who Are Naive to Enzyme Replacement Therapy | Fabry Disease | Drug: Agalsidase alfa | Shire | Not recruiting | 7 Years | 17 Years | All | 17 | Phase 2 | United States;Canada | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 361 | NCT00151216 | June 2004 | 29 April 2019 | Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis | Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis | Batten Disease;Late Infantile Neuronal Ceroid Lipofuscinosis | Biological: AAV2CUhCLN2 (3x10^12 particle units) | Weill Medical College of Cornell University | Nathan's Battle Foundation | Not recruiting | 3 Years | 18 Years | All | 10 | Phase 1 | United States |
| 362 | NCT00233870 | June 2004 | 25 May 2015 | A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. | Special Survey in Long-Term Use of Fabrazyme | Fabry Disease | Drug: Agalsidase beta (recombinant form) | Genzyme, a Sanofi Company | Not recruiting | N/A | N/A | Both | 405 | Phase 4 | Japan | |
| 363 | NCT00176891 | March 2004 | 22 July 2019 | Stem Cell Transplant w/Laronidase for Hurler | Phase II Study of Combined Laronidase (AldurazymeTM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH) | Mucopolysaccharidosis I;Hurler Syndrome | Procedure: Stem Cell Transplant;Drug: Laronidase ERT | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | 7 Years | All | 25 | Phase 2 | United States | |
| 364 | NCT00104234 | February 2004 | 19 October 2017 | Study of rhASB in Patients With Mucopolysaccharidosis VI | A Multicenter, Multinational Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With Mucopolysaccharidosis VI | Mucopolysaccharidosis VI | Drug: N-acetylgalactosamine 4-sulfatase;Drug: Placebo/rhASB | BioMarin Pharmaceutical | Not recruiting | 7 Years | N/A | All | 39 | Phase 3 | United States | |
| 365 | NCT00075244 | January 2004 | 19 February 2015 | Alternative Dosing and Regimen of Replagal to Treat Fabry Disease | A Phase I-II Pharmacokinetic/Pharmacodynamic Study of Replagal to Assess the Effects of Alternative Dose and Regimen in Patients With Fabry Disease | Fabry Disease | Drug: Replagal | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | N/A | N/A | Male | 25 | Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 366 | NCT00081497 | January 2004 | 19 October 2017 | A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease | Multi-Center, Open-Label Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease That Previously Participated in the AGAL-008-00 Study | Fabry Disease | Biological: agalsidase beta | Genzyme, a Sanofi Company | Not recruiting | 16 Years | N/A | All | 67 | Phase 4 | United States;Canada;Czech Republic;Hungary;Poland;United Kingdom | |
| 367 | EUCTR2004-000642-21-IE | 2 October 2017 | A Multicenter, Multinational, Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients with Mucopolysaccharidosis VI - Aryplase Phase 3 Open-Label Extension | A Multicenter, Multinational, Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients with Mucopolysaccharidosis VI - Aryplase Phase 3 Open-Label Extension | Mucopolysaccharidosis Type VI (MPS VI; Maroteaux-Lamy Syndrome) MedDRA version: 6.0 Level: PT Classification code 10056892 | Product Name: recombinant human N-acetylgalactosamine 4-sulfatase Product Code: N/A Pharmaceutical Form: Concentrate for solution for infusion | BioMarin Pharmaceutical Inc. | Not Available | Female: yes Male: yes | 38 | Phase 3 | Ireland | ||||
| 368 | NCT00071877 | October 2003 | 19 February 2015 | An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease | A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease | Fabry Disease | Drug: Replagal | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | N/A | N/A | Both | 25 | Phase 2 | United States | |
| 369 | NCT00357786 | October 2003 | 19 February 2015 | An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease | An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal® (Registered Trademark) in Patients With Fabry Disease | Fabry Disease | Drug: Replagal agalsidase alfa;Drug: Replagal | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | 39 Years | 45 Years | Male | 3 | Phase 1 | United States | |
| 370 | NCT00067470 | September 2003 | 19 October 2017 | Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI | Mucopolysaccharidosis VI | Drug: Placebo;Drug: N-acetylgalactosamine 4-sulfatase | BioMarin Pharmaceutical | Not recruiting | 7 Years | N/A | All | 39 | Phase 3 | United States | ||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 371 | NCT00068107 | September 2003 | 19 October 2017 | Dosing Study of Replagal in Patients With Fabry Disease | Study of Weekly Dosing Regimens of Replagal in Patients With Fabry Disease With Incomplete Clinical Response to Long-Term Therapy | Fabry Disease | Drug: Replagal | Baylor Research Institute | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | N/A | N/A | Male | 13 | Phase 2 | United States |
| 372 | NCT00069641 | September 2003 | 19 October 2017 | Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) | A Phase II/III, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Safety and Efficacy of Weekly and Every Other Week Dosing Regimens of Iduronate-2-Sulfatase Enzyme Replacement Therapy in Patients With MPS II | Mucopolysaccharidosis II | Biological: Iduronate-2-sulfatase enzyme replacement therapy;Biological: iduronate-2-sulfatase enzyme replacement therapy;Biological: Placebo | Shire | Not recruiting | 5 Years | 25 Years | Male | 96 | Phase 2/Phase 3 | United Kingdom;Brazil;Germany;United States | |
| 373 | NCT00196716 | June 2003 | 19 October 2017 | A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease | A Multicenter, Open-label Study of Low Dose Maintenance Treatment of Fabrazyme (Recombinant Human Alpha-Galactosidase A (R-h Alpha-GAL)) Replacement Therapy in Patients With Fabry Disease | Fabry Disease | Biological: Fabrazyme (agalsidase beta) | Genzyme, a Sanofi Company | Not recruiting | 16 Years | N/A | Male | 21 | Phase 2 | Czech Republic;Estonia;Poland;Slovakia | |
| 374 | NCT00837824 | December 2002 | 19 October 2017 | Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme | A Phase 2, Randomized, Open Label, Dose-Ranging, Multiple Dose Study of Fabrazyme® In Patients With Fabry Disease and With Severe Renal Disease | Fabry Disease;Chronic Kidney Disease, Stage IV (Severe) | Biological: Fabrazyme (agalsidase beta) | Genzyme, a Sanofi Company | CRL/Medinet | Not recruiting | 16 Years | N/A | All | 20 | Phase 2 | United States |
| 375 | NCT00048906 | November 2002 | 19 February 2015 | Alpha-Galactosidase A Replacement Therapy for Fabry Disease | A Safety and Pharmacokinetic Study of Replagal Enzyme Replacement Therapy in Patients With Fabry Disease | Fabry Disease | Drug: DRX005B | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | N/A | N/A | Both | 3 | Phase 2 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 376 | NCT00316498 | October 17, 2002 | 16 December 2017 | Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease | A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease | Niemann Pick Diseases | Drug: OGT918 | National Eye Institute (NEI) | Not recruiting | 12 Years | N/A | All | 30 | Phase 1 | United States;United Kingdom | |
| 377 | NCT00074958 | October 2002 | 19 October 2017 | A Study of Fabrazyme in Pediatric Patients With Fabry Disease | A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease | Fabry Disease | Biological: Fabrazyme (agalsidase beta) | Genzyme, a Sanofi Company | Not recruiting | 7 Years | 15 Years | All | 16 | Phase 2 | United States;France;Poland;United Kingdom;Italy | |
| 378 | NCT00146757 | October 2002 | 19 October 2017 | A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old | A Phase II Open-Label Clinical Trial of Recombinant Human Alpha-L-iduronidase (Aldurazyme®) to Evaluate the Safety and Pharmacokinetics in Mucopolysaccharidosis I (MPS I) Patients Less Than 5 Years Old | Mucopolysaccharidosis I;Hurler Syndrome;Hurler-Scheie Syndrome;Scheie Syndrome | Biological: Aldurazyme (Recombinant Human Alpha-L-Iduronidase) | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Not recruiting | N/A | 5 Years | All | 20 | Phase 2 | France;Germany;Netherlands;United Kingdom |
| 379 | NCT00041535 | July 5, 2002 | 16 December 2017 | OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease | A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease | Gaucher Disease | Drug: OGT 918 | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | 4 Years | N/A | All | 30 | Phase 2 | United States;United Kingdom | |
| 380 | NCT00048711 | March 2002 | 19 February 2015 | Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI | Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI | Mucopolysaccharidosis VI | Drug: N-acetylgalactosamine 4-sulfatase | BioMarin Pharmaceutical | Not recruiting | 5 Years | N/A | Both | Phase 2 | United States | ||
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 381 | NCT00364858 | December 2001 | 19 October 2017 | Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease | A Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients With Type 1 Gaucher Disease | Gaucher Disease, Type 1;Cerebroside Lipidosis Syndrome;Glucocerebrosidase Deficiency Disease;Glucosylceramide Beta-Glucosidase Deficiency Disease;Gaucher Disease, Non-Neuronopathic Form | Drug: Cerezyme | Genzyme, a Sanofi Company | Not recruiting | 18 Years | N/A | All | 95 | Phase 4 | United States;Brazil;Canada;Italy;Poland;Spain;United Kingdom | |
| 382 | NCT01997489 | September 2001 | 19 February 2015 | Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. | Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients | Fabry Disease | Drug: Enzyme replacement | Rigshospitalet, Denmark | Not recruiting | 15 Years | N/A | Both | 39 | Phase 4 | Denmark | |
| 383 | NCT00146770 | May 2001 | 19 October 2017 | Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients | A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I | Mucopolysaccharidosis I;Hurler's Syndrome;Hurler-Scheie Syndrome;Scheie Syndrome | Biological: Aldurazyme;Biological: placebo | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Not recruiting | N/A | N/A | All | 45 | Phase 3 | United States;Brazil;Canada;Germany;Italy;Netherlands;United Kingdom |
| 384 | NCT00028262 | February 2001 | 19 October 2017 | Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis | A Combination Therapy With Cystagon and N-Acetylcysteine for INCL Patients | Infantile Neronal Ceroid Lipofuscinosis | Drug: Cystagon | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Not recruiting | 6 Months | 3 Years | All | 10 | Phase 4 | United States | |
| 385 | NCT00074984 | February 2001 | 19 October 2017 | A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease | Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study of the Safety and Efficacy of Fabrazyme on Progression of Renal Disease and Significant Clinical Events in Patients With Fabry Disease | Fabry Disease | Biological: Fabrazyme (agalsidase beta);Biological: Placebo | Genzyme, a Sanofi Company | Not recruiting | 16 Years | N/A | All | 82 | Phase 4 | United States;Canada;Czech Republic;Hungary;Poland;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 386 | NCT00912925 | December 2000 | 19 October 2017 | Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I | A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis I | Mucopolysaccharidosis I;Hurlers Syndrome;Hurler-Scheie Syndrome | Biological: rhIDU (recombinant human-Alpha-L-Iduronidase);Biological: Placebo | Genzyme, a Sanofi Company | BioMarin/Genzyme LLC | Not recruiting | 5 Years | N/A | All | 45 | Phase 3 | United States;Canada;Germany |
| 387 | NCT00048620 | September 2000 | 19 February 2015 | Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI | Double-Blind,2 Dose Group Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI | Mucopolysaccharidosis VI | Drug: N-acetylgalactosamine 4-sulfatase | BioMarin Pharmaceutical | Not recruiting | N/A | N/A | Both | Phase 1 | United States | ||
| 388 | NCT00010426 | December 1999 | 7 April 2015 | Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis | Cystinosis | Drug: cysteamine hydrochloride | FDA Office of Orphan Products Development | Sigma Tau Pharmaceuticals, Inc. | Not recruiting | 1 Year | 50 Years | Both | 30 | N/A | ||
| 389 | NCT00004293 | November 1999 | 19 February 2015 | Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease | Gaucher's Disease | Drug: glucocerebrosidase | National Center for Research Resources (NCRR) | University of Pittsburgh | Recruiting | 18 Years | 65 Years | Both | 24 | Phase 2 | United States | |
| 390 | NCT00074971 | October 1999 | 19 February 2015 | A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease | A Multi-center, Open-Label Extension Study of the Safety and Efficacy of Recombinant Human a-Galactosidase A (r-haGAL) Replacement in Patients With Fabry Disease | Fabry Disease | Drug: Fabrazyme (agalsidase beta) | Genzyme, a Sanofi Company | Not recruiting | 16 Years | N/A | Both | 58 | Phase 3 | United States;France;Netherlands;Puerto Rico;United Kingdom | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 391 | NCT00176917 | May 1999 | 19 October 2017 | Stem Cell Transplantation for Hurler | Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) | Mucopolysaccharidosis I;Mucopolysaccharidosis VI;Mannosidosis;Mucolipidosis Type II (I-cell Disease) | Procedure: Stem Cell Transplant;Drug: Busulfan, Cyclophosphamide, ATG | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | N/A | All | 41 | Phase 2 | United States | |
| 392 | NCT00004488 | October 1998 | 7 April 2015 | Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease | Gaucher's Disease;Osteopenia | Drug: alendronate sodium;Drug: calcium carbonate;Drug: cholecalciferol | Children's Hospital Medical Center, Cincinnati | Not recruiting | 18 Years | 50 Years | Both | 82 | Phase 2 | United States;Israel | ||
| 393 | NCT00001736 | May 1998 | 19 February 2015 | New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis | Safety and Efficacy Trial of a Proposed NDA Formulation of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis | Cystinosis | Drug: Cysteamine | National Eye Institute (NEI) | Not recruiting | N/A | N/A | Both | 51 | Phase 1 | United States | |
| 394 | NCT00365131 | December 1997 | 16 March 2015 | A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. | Gaucher Disease Type I;Cerebroside Lipidosis Syndrome;Clucocerebrosidase Deficiency Disease;Glucosylceramide Beta-Glucosidase Deficiency Disease;Gaucher Disease, Non-Neuronopathic Form | Drug: Cerezyme (imiglucerase for injection) | Genzyme, a Sanofi Company | Not recruiting | 10 Years | 65 Years | Both | 40 | Phase 4 | United States | ||
| 395 | NCT00176904 | January 1995 | 19 October 2017 | Stem Cell Transplant for Inborn Errors of Metabolism | Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation | Adrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Gaucher's Disease;Fucosidosis;Wolman Disease;Niemann-Pick Disease;Batten Disease;GM1 Gangliosidosis;Tay Sachs Disease;Sandhoff Disease | Procedure: Stem Cell Transplant;Drug: Busulfan, Cyclophosphamide, Antithymocyte Globulin | Masonic Cancer Center, University of Minnesota | Not recruiting | N/A | N/A | All | 135 | Phase 2/Phase 3 | United States | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 396 | NCT00001972 | September 1994 | 19 February 2015 | PET Scan of Brain Metabolism in Relation to Age and Disease | Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease | Alzheimer's Disease;Brain Neoplasm;Niemann Pick Disease | Drug: 15 O Water | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | N/A | N/A | Both | 123 | N/A | United States | |
| 397 | NCT00001416 | December 1993 | 3 October 2016 | Bone Response to Enzyme Replacement in Gaucher's Disease | Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease | Gaucher's Disease | Drug: CEREDASE™ | National Institute of Neurological Disorders and Stroke (NINDS) | Not recruiting | N/A | N/A | Both | 100 | Phase 2 | United States | |
| 398 | NCT00001410 | October 1993 | 19 February 2015 | PEG-Glucocerebrosidase for the Treatment of Gaucher Disease | A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease | Gaucher's Disease | Drug: Lysodase | National Institute of Mental Health (NIMH) | Not recruiting | N/A | N/A | Both | 18 | Phase 1 | United States | |
| 399 | NCT00001213 | April 1986 | 19 October 2017 | Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis | Trial of Topical Cysteamine in the Treatment of Corneal Cystine Crystal Accumulation in Cystinosis | Cystinosis | Drug: Cysteamine | National Eye Institute (NEI) | Not recruiting | 2 Years | N/A | All | 328 | Phase 2 | United States |