ADMINISTRATION ( DrugBank: - )
1 disease
| ID | Disease name (Link within this page) | Number of trials |
|---|---|---|
| 19 | Lysosomal storage disease | 74 |
19. Lysosomal storage disease
Clinical trials : 899 / Drugs : 684 - (DrugBank : 99) / Drug target genes : 51 - Drug target pathways : 182
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | JPRN-jRCT2071220022 | 14/07/2022 | 25/06/2022 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy | Fabry's disease | Drug: Venglustat (GZ402671) Pharmaceutical form: Tablet, Route of administration: Oral Drug: Agalsidase alfa Pharmaceutical form: Concentrate for solution for infusion, Route of administration: IV infusion Drug: Agalsidase beta (GZ419828) Pharmaceutical form: Powder for concentrate for solution for infusion, Route of administration: IV infusion Drug: Migalastat Pharmaceutical form: Hard capsules, Route of administration: Oral | Tanaka Tomoyuki | NULL | Recruiting | >= 18age old | <= 65age old | Both | 90 | Phase 3 | China;Italy;Republic of Korea;Japan |
| 2 | NCT05228145 (ClinicalTrials.gov) | January 31, 2022 | 17/12/2021 | Gene Therapy Study for Children With CLN5 Batten Disease | A Phase 1/2 Intracerebroventricular and Intravitreal Administration of NGN-101 for Treatment of Neuronal Ceroid Lipofuscinosis (NCL) Subtype 5 (CLN5) Disease | Neuronal Ceroid Lipofuscinosis CLN5 | Genetic: NGN-101 | Neurogene Inc. | NULL | Recruiting | 3 Years | 9 Years | All | 6 | Phase 1/Phase 2 | United States;United Kingdom |
| 3 | JPRN-jRCT2031210279 | 15/09/2021 | 27/08/2021 | An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712 | An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712 | Acid sphingomyelinase deficiency | Drug: Olipudase alfa (GZ402665) Pharmaceutical form: lyophilized powder, Route of administration: Intravenous (IV) infusion. | Tanaka Tomoyuki | NULL | Not Recruiting | >= 20age old | Not applicable | Both | 1 | Phase 2-3 | Japan |
| 4 | EUCTR2019-002936-97-FR (EUCTR) | 06/07/2021 | 09/02/2021 | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | 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. 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: rAAV9.CMV.hNAGLU Product Code: ABO-101 INN or Proposed INN: rAAV9.CMV.hNAGLU Other descriptive name: Adeno-associated viral vector serotype 9 containing the human N-acetyl-alpha-glucosaminidase gene | Abeona Therapeutics Europe SL. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | United States;France;Germany | ||
| 5 | NCT04669535 (ClinicalTrials.gov) | January 15, 2021 | 23/11/2020 | A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease | A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease | Tay-Sachs Disease;Sandhoff Disease | Biological: AXO-AAV-GM2 Starting Dose;Biological: AXO-AAV-GM2 Low Dose;Biological: AXO-AAV-GM2 Middle Dose;Biological: AXO-AAV-GM2 High Dose | Terence Flotte | University of Massachusetts, Worcester;Massachusetts General Hospital | Active, not recruiting | 6 Months | 12 Years | All | 7 | Phase 1 | United States |
| 6 | NCT04655911 (ClinicalTrials.gov) | October 28, 2020 | 17/11/2020 | A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101 | A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | Mucopolysaccharidosis III-B | Biological: ABO-101 | Abeona Therapeutics, Inc | NULL | Terminated | N/A | N/A | All | 1 | United States;France;Germany | |
| 7 | JPRN-jRCT2021200023 | 27/10/2020 | 09/10/2020 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late onset GM2 gangliosidosis and ultra rare diseases within the same and similar glucosylceramide-based sphingolipid pathway | Tay-Sachs Disease, Sandhoff Disease | Drug: venglustat GZ402671 - Pharmaceutical form: tablet - Route of administration: oral Drug: placebo - Pharmaceutical form: tablet - Route of administration: oral | Tanaka Tomoyuki | NULL | Not Recruiting | >= 2age old | Not applicable | Both | 77 | Phase 3 | Spain;United States;Brazil;Russian Federation;United Kingdom;Argentina;Austria;Czechia;Germany;Italy;Portugal;Turkey;France;Japan |
| 8 | NCT04360265 (ClinicalTrials.gov) | September 28, 2020 | 20/4/2020 | A Long-term Follow-up Study of Patients With MPS IIIA Treated With ABO-102 | A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) | Mucopolysaccharidosis III-A | Biological: ABO-102 | Ultragenyx Pharmaceutical Inc | Abeona Therapeutics, Inc | Enrolling by invitation | N/A | N/A | All | 50 | United States;Australia;Spain | |
| 9 | NCT04476862 (ClinicalTrials.gov) | August 19, 2020 | 15/7/2020 | Cerliponase Alfa Observational Study in the US | Cerliponase Alfa Observational Study | Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 | Drug: Cerliponase Alfa;Device: Administration Kit | BioMarin Pharmaceutical | NULL | Recruiting | N/A | N/A | All | 35 | United States | |
| 10 | EUCTR2019-002979-34-ES (EUCTR) | 18/05/2020 | 25/05/2020 | A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) | A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) | MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine 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 treatmentcurrently available for the disease. 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: scAAV9.U1A.hSGSH Product Code: ABO-102 INN or Proposed INN: Rebisufligene etisparvovec | Abeona Therapeutics Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 34 | Phase 1;Phase 2 | Germany;United States;France;Spain;Australia | ||
| 11 | JPRN-jRCT2021220001 | 20/04/2020 | 13/04/2022 | A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry disease | A randomized, double-blind, placebo-controlled, 12-month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naive or untreated for at least 6 months | Fabry Disease | Drug: Venglustat (GZ402671) Pharmaceutical form: Tablet, Route of administration: Oral Drug: Placebo Pharmaceutical form: Tablet, Route of administration: Oral | Tanaka Tomoyuki | NULL | Recruiting | >= 18age old | Not applicable | Both | 114 | Phase 3 | United States;Japan |
| 12 | JPRN-jRCT2031220250 | 11/03/2020 | 07/08/2022 | Lon-term study of idursulfase beta in patients with mucopolysaccharidosis type II | Lon-term study of idursulfase beta in patients with mucopolysaccharidosis type II - CKK001 | Mucopolysaccharidosis type II;D016532 | [Investigative drug, dose, and administration method] - Investigative drug: Vial formulation filled with idursulfase beta for intracerebroventricular administration (Concentration 15 +/- 1.5 mg/mL, liquid volume 1.25 mL) - Dose and administration method: An implantable cerebrospinal fluid reservoir is attached to the subject's head, and idursulfase beta 30 mg is administered to the ventricles once every 4 weeks. | Yanagi Komei | NULL | Complete | >= 6month old | < 15age old | Male | 6 | Phase 3 | Japan |
| 13 | NCT04539340 (ClinicalTrials.gov) | February 28, 2020 | 28/8/2020 | A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers | An Open-label Multi-cohort Dose-escalation Study to Evaluate the Tolerance, Safety, and Pharmacokinetics of GNR-055 (GENERIUM JSC, Russia) in Healthy Volunteers With a Single Intravenous Administration | Mucopolysaccharidosis Type II;Metabolic Diseases | Biological: GNR-055 | AO GENERIUM | NULL | Completed | 18 Years | 50 Years | Male | 20 | Phase 1 | Russian Federation |
| 14 | NCT04787887 (ClinicalTrials.gov) | January 29, 2020 | 4/3/2021 | A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers | A Randomized, Double-blind, 2-treatment, 2-period, Crossover Phase I Study to Compare the PK, Safety and Tolerability of 60 IU/kg of Abcertin, and EU-sourced Cerezyme® in Healthy Volunteers Following a Single Intravenous Administration | Gaucher Disease | Drug: Abcertin;Drug: EU-sourced Cerezyme | ISU Abxis Co., Ltd. | NULL | Completed | 18 Years | 45 Years | All | 42 | Phase 1 | Australia |
| 15 | EUCTR2018-000195-15-DE (EUCTR) | 16/12/2019 | 22/10/2018 | 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 INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2;Phase 3 | France;United States;Netherlands;Germany;United Kingdom | ||
| 16 | JPRN-JapicCTI-194975 | 01/10/2019 | 27/09/2019 | 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 | NULL | other | 16 | BOTH | 20 | Phase 3 | Japan | |
| 17 | EUCTR2018-000195-15-GB (EUCTR) | 28/05/2019 | 19/09/2018 | 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 INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Phase 2;Phase 3 | Germany;United Kingdom;United States;France;Netherlands | ||
| 18 | JPRN-JMA-IIA00421 | 07/05/2019 | 26/04/2019 | 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 | NULL | Completed | No Limit | No Limit | BOTH | 3 | Phase 2-3 | Japan |
| 19 | JPRN-JapicCTI-194731 | 30/4/2019 | 24/04/2019 | 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 | NULL | complete | 16 | BOTH | 20 | Phase 3 | Japan | |
| 20 | EUCTR2018-000195-15-NL (EUCTR) | 25/03/2019 | 27/09/2018 | 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 INN or Proposed INN: olenasufligene relduparvovec Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2;Phase 3 | United States;France;Germany;Netherlands;United Kingdom | ||
| 21 | JPRN-JMA-IIA00416 | 17/01/2019 | 11/03/2019 | 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 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 HospitalTakashi Hamazaki | NOT APPLICABLE | Completed | >=4 YEARS | <=40 YEARS | BOTH | 3 | Phase 2 | Japan |
| 22 | EUCTR2017-002158-35-PT (EUCTR) | 14/01/2019 | 23/07/2018 | 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. | 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 INN or Proposed INN: Odiparcil | Inventiva S.A. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | France;Portugal;Germany;United Kingdom | ||
| 23 | EUCTR2018-000195-15-FR (EUCTR) | 27/12/2018 | 04/09/2018 | 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 INN or Proposed INN: olenasufligene relduparvovec Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;France;Netherlands;Germany;United Kingdom | ||
| 24 | EUCTR2017-002158-35-DE (EUCTR) | 03/12/2018 | 16/08/2017 | 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 INN or Proposed INN: Odiparcil | Inventiva S.A. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | Portugal;France;Germany;United Kingdom | ||
| 25 | EUCTR2017-002158-35-GB (EUCTR) | 16/11/2017 | 08/08/2017 | 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 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 INN or Proposed INN: Odiparcil | Inventiva S.A. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Portugal;France;Germany;United Kingdom | ||
| 26 | EUCTR2012-003775-20-IT (EUCTR) | 20/03/2017 | 15/03/2017 | 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: 19.1;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 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;United Kingdom;Italy | ||
| 27 | JPRN-UMIN000023517 | 2016/10/01 | 01/10/2016 | A study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type C | A study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type C - IT-HPBCD therapy for NPC (Long-term) | Niemann-Pick disease type C | 2-hydroxypropyl-beta-cyclodextrin (HPBCD) 20mg/kg/dose, every 3-4 weeks, for three years | Nara Medical University | NULL | Pending | 4years-old | 6years-old | Male and Female | 1 | Not selected | Japan |
| 28 | JPRN-JMA-IIA00350 | 29/07/2016 | 04/06/2018 | 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 | Completed | >=6 MONTHS | <15 YEARS | Male | 6 | Phase 1-2 | Japan |
| 29 | EUCTR2015-000359-26-ES (EUCTR) | 29/04/2016 | 03/02/2016 | 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 INN or Proposed INN: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana Other descriptive name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana | Laboratorios del Dr. Esteve, S.A. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Phase 1;Phase 2 | Spain | |||
| 30 | EUCTR2012-003775-20-GB (EUCTR) | 25/04/2016 | 06/06/2016 | 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 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom | ||
| 31 | NCT02156674 (ClinicalTrials.gov) | January 26, 2016 | 3/6/2014 | 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 | Active, not recruiting | 3 Years | N/A | All | 1 | N/A | United States |
| 32 | EUCTR2014-003960-20-IT (EUCTR) | 16/09/2015 | 05/11/2020 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | 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 - NA | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) 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: Recombinant human heparan Nsulfatase (rhHNS) Product Code: [HGT-1410] INN or Proposed INN: NA Other descriptive name: Recombinant human heparan N-sulfatase | SHIRE HUMAN GENETIC THERAPIES, INC | NULL | Not Recruiting | Female: yes Male: yes | 17 | Phase 2 | United States;France;Spain;Netherlands;Germany;United Kingdom;Italy | ||
| 33 | EUCTR2014-003960-20-NL (EUCTR) | 18/08/2015 | 05/03/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | An Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) 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: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 17 | Phase 2 | United States;France;Spain;Germany;Netherlands;United Kingdom;Italy | ||
| 34 | EUCTR2014-003960-20-GB (EUCTR) | 10/08/2015 | 01/04/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | 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 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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 17 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 35 | EUCTR2014-003960-20-DE (EUCTR) | 15/06/2015 | 26/01/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | An Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) 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: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 17 | Phase 2 | France;United States;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 36 | NCT02350816 (ClinicalTrials.gov) | April 8, 2015 | 21/1/2015 | 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 | NULL | Terminated | 12 Months | 48 Months | All | 17 | Phase 2 | United States;France;Germany;Italy;Netherlands;Spain;United Kingdom |
| 37 | EUCTR2014-003960-20-ES (EUCTR) | 18/02/2015 | 26/01/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | A Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA 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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 38 | EUCTR2013-003450-24-IT (EUCTR) | 11/09/2014 | 09/05/2014 | 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: 17.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 17.0;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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;Spain;Netherlands;Germany;United Kingdom;Italy | ||
| 39 | NCT02254863 (ClinicalTrials.gov) | September 2014 | 23/9/2014 | 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 | 1 Week | 22 Years | All | 40 | Phase 1 | United States |
| 40 | JPRN-UMIN000023094 | 2014/08/01 | 10/07/2016 | A study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type C | A study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type C - IT-HPBCD therapy for NPC | Niemann-Pick disease type C | 2-hydroxypropyl-beta-cyclodextrin (HPBCD) 5-20mg/kg, every 4 weeks, for two years | Nara Medical University | Saga UniversityKumamoto University | Complete: follow-up continuing | 1years-old | 25years-old | Male and Female | 1 | Not selected | Japan |
| 41 | EUCTR2012-003775-20-CZ (EUCTR) | 06/06/2014 | 14/02/2014 | 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 Name: SHP611 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Japan;Italy | ||
| 42 | NCT01801709 (ClinicalTrials.gov) | June 2014 | 28/1/2013 | Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy | 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. | Metachromatic Leukodystrophy | Genetic: intracerebral administration of AAVrh.10cuARSA | Institut National de la Santé Et de la Recherche Médicale, France | European Leukodystrophy Association;Assistance Publique - Hôpitaux de Paris | Active, not recruiting | 6 Months | 5 Years | All | 5 | Phase 1/Phase 2 | France |
| 43 | EUCTR2013-003450-24-DE (EUCTR) | 09/04/2014 | 07/11/2013 | 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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 44 | EUCTR2013-003450-24-NL (EUCTR) | 03/03/2014 | 21/11/2013 | 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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom | ||
| 45 | NCT02060526 (ClinicalTrials.gov) | February 26, 2014 | 10/2/2014 | Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA Disease | Sanfilippo Syndrome | Drug: Recombinant human heparan N-sulfatase [rhHNS] | Shire | NULL | Completed | 12 Months | 48 Months | All | 21 | Phase 2 | United States;Argentina;France;Germany;Italy;Netherlands;Spain;United Kingdom |
| 46 | EUCTR2013-003450-24-ES (EUCTR) | 16/01/2014 | 12/11/2013 | 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: 14.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 14.1;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: heparán N sulfatasa humana recombinante (rhHNS) Product Code: HGT-1410 INN or Proposed INN: No disponible Other descriptive name: Heparán N sulfatasa humana recombinante | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom | ||
| 47 | EUCTR2013-003450-24-GB (EUCTR) | 08/01/2014 | 08/11/2013 | 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: 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] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 48 | NCT03300453 (ClinicalTrials.gov) | September 17, 2013 | 15/6/2016 | 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 | Completed | 18 Months | 60 Months | All | 4 | Phase 1/Phase 2 | France |
| 49 | EUCTR2012-003775-20-DE (EUCTR) | 11/09/2013 | 14/12/2012 | 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 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czechia;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Italy;Japan | ||
| 50 | NCT01887938 (ClinicalTrials.gov) | May 23, 2013 | 20/6/2013 | 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 | NULL | Active, not recruiting | N/A | 13 Years | All | 24 | Phase 1/Phase 2 | Australia;Brazil;Czechia;Denmark;France;Germany;Japan;Argentina;Czech Republic |
| 51 | NCT02053064 (ClinicalTrials.gov) | May 2013 | 16/1/2014 | Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy | Long-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301. | Mucopolysaccharidosis Type III A;Sanfilippo Disease Type A | Genetic: SAF-301 | LYSOGENE | NULL | Completed | N/A | N/A | All | 4 | Phase 1/Phase 2 | France |
| 52 | EUCTR2012-003775-20-DK (EUCTR) | 30/04/2013 | 21/12/2012 | 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 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czechia;Czech Republic;Brazil;Australia;Denmark;Germany;United Kingdom;Italy;Japan | ||
| 53 | EUCTR2011-004410-42-FR (EUCTR) | 26/11/2012 | 19/12/2012 | 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;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 | Inserm | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Phase 1/2 | France | |||
| 54 | NCT01173016 (ClinicalTrials.gov) | May 29, 2012 | 28/7/2010 | 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 | NULL | Completed | N/A | 14 Years | All | 11 | Phase 1 | United States |
| 55 | NCT01730482 (ClinicalTrials.gov) | August 2011 | 8/11/2012 | 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 | NULL | Completed | 30 Years | 55 Years | Male | 6 | Phase 1 | NULL |
| 56 | NCT01474343 (ClinicalTrials.gov) | August 2011 | 10/11/2011 | 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 Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome. | Mucopolysaccharidosis Type III A;Sanfilippo Disease Type A | Genetic: SAF-301 | LYSOGENE | NULL | Completed | 18 Months | 6 Years | Both | 4 | Phase 1/Phase 2 | France |
| 57 | NCT01299727 (ClinicalTrials.gov) | March 1, 2011 | 16/2/2011 | 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 | Biological: rhHNS-10 mg;Biological: rhHNS-45 mg;Biological: rhHNS-90 mg | Shire | NULL | Terminated | 3 Years | N/A | All | 12 | Phase 1/Phase 2 | Netherlands;United Kingdom |
| 58 | EUCTR2010-021348-16-NL (EUCTR) | 17/02/2011 | 09/02/2011 | Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients | 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: 19.0;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] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 12 | Phase 1;Phase 2 | Netherlands;United Kingdom | ||
| 59 | EUCTR2010-021348-16-GB (EUCTR) | 09/02/2011 | 20/12/2010 | 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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 7 | Phase 1;Phase 2 | Netherlands;United Kingdom | ||
| 60 | NCT01161576 (ClinicalTrials.gov) | August 19, 2010 | 22/3/2010 | 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) | Completed | 2 Years | 18 Years | All | 12 | Phase 1 | United States |
| 61 | NCT01155778 (ClinicalTrials.gov) | June 1, 2010 | 24/6/2010 | Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients | A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) | Mucopolysaccharidosis (MPS) | Biological: Recombinant human heparan N-sulfatase (rhHNS) | Shire | NULL | Completed | 3 Years | N/A | All | 12 | Phase 1/Phase 2 | Netherlands;United Kingdom |
| 62 | NCT01414985 (ClinicalTrials.gov) | April 15, 2010 | 13/12/2010 | 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 | NULL | Completed | 3 Years | 18 Years | All | 8 | Phase 1/Phase 2 | United States |
| 63 | EUCTR2009-015984-15-GB (EUCTR) | 25/03/2010 | 17/03/2010 | A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan-N-sulfatase (rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) | A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan-N-sulfatase (rhHNS) Intrathecal Administration via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 14.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 14.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;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 Other descriptive name: Recombinant human heparan N-sulfatase (rhHNS) | Shire Human Genetic Therapies, Inc. (Shire HGT) | NULL | Not Recruiting | Female: yes Male: yes | 15 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United Kingdom | ||
| 64 | NCT00920647 (ClinicalTrials.gov) | November 18, 2009 | 12/6/2009 | 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 | NULL | Completed | 3 Years | 18 Years | Male | 16 | Phase 1/Phase 2 | United States;United Kingdom |
| 65 | EUCTR2007-005516-61-IT (EUCTR) | 06/02/2009 | 23/03/2009 | 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 INN or Proposed INN: Imiglucerase Trade Name: ZAVESCA INN or Proposed INN: Miglustat | ISTITUTO GIANNINA GASLINI | NULL | Not Recruiting | Female: yes Male: yes | Italy | ||||
| 66 | NCT00151216 (ClinicalTrials.gov) | June 2004 | 6/9/2005 | 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 | Completed | 3 Years | 18 Years | All | 10 | Phase 1 | United States |
| 67 | EUCTR2010-019962-10-FR (EUCTR) | 19/11/2010 | 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 | SANFILIPPO Therapeutics SAS | NULL | Not Recruiting | Female: yes Male: yes | 4 | Phase 1/2 | France | |||
| 68 | EUCTR2012-000856-33-FR (EUCTR) | 15/05/2014 | Intracerebral Gene therapy in children with Sanfilippo type B syndrome | 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 | Mucopolysaccharidosis III B MedDRA version: 17.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: rAAV2/5-hNaGlu | Institut Pasteur | NULL | NA | Female: yes Male: yes | Phase 1;Phase 2 | France | ||||
| 69 | EUCTR2012-003775-20-FR (EUCTR) | 27/06/2013 | 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: 16.0;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 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | NA | Female: yes Male: yes | 18 | Phase 1;Phase 2 | France;Czech Republic;Argentina;Brazil;Denmark;Australia;Germany;United Kingdom | |||
| 70 | EUCTR2014-003960-20-FR (EUCTR) | 25/06/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | A 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 Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 18.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 18.0;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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;France;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom | |||
| 71 | EUCTR2017-002158-35-FR (EUCTR) | 07/03/2018 | 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 INN or Proposed INN: Odiparcil | Inventiva S.A. | NULL | Not Recruiting | Female: yes Male: yes | 24 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Portugal;France;Germany;United Kingdom | |||
| 72 | EUCTR2019-004949-32-FR (EUCTR) | 09/03/2020 | LYS-GM101 gene therapy trial in patients with GM1 gangliosidosis | An open-label adaptive-design study of intracisternal administration of adeno-associated viral vector serotype rh.10 carrying the human ß-galactosidase cDNA for the treatment of GM1 gangliosidosis | GM1 gangliosidosis MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: LYS-GM101 Product Code: LYS-GM101 INN or Proposed INN: adeno-associated virus (AAV) serotype rh.10 expressing human betagalactosidase (AAVrh.10-CAG-ßgal) Other descriptive name: Adeno-associated virus serotype rh.10 expressing beta-galactosidase | Lysogene | NULL | NA | Female: yes Male: yes | 18 | Phase 1;Phase 2 | United States;France;United Kingdom | |||
| 73 | EUCTR2013-003450-24-FR (EUCTR) | 29/09/2015 | 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: 18.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 18.0;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 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | NA | Female: yes Male: yes | 18 | Phase 2 | United States;France;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom | |||
| 74 | EUCTR2019-002936-97-DE (EUCTR) | 08/01/2020 | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | 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. 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: rAAV9.CMV.hNAGLU Product Code: ABO-101 INN or Proposed INN: rAAV9.CMV.hNAGLU Other descriptive name: Adeno-associated viral vector serotype 9 containing the human N-acetyl-alpha-glucosaminidase gene | Abeona Therapeutics Europe SL. | NULL | Not Recruiting | Female: yes Male: yes | 24 | Phase 1;Phase 2 | United States;France;Spain;Germany |