234. ペルオキシソーム病（副腎白質ジストロフィーを除く。） ［臨床試験数：17，薬物数：28（DrugBank：11），標的遺伝子数：11，標的パスウェイ数：37］
Searched query = "Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "Zellweger syndrome", "PEX gene disorder", "Neonatal adrenoleukodystrophy", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta oxidation enzyme deficiency", "Acyl CoA oxidase deficiency", "AOX deficiency", "D Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2 methylacyl CoA racemase deficiency", "Alpha methylacyl CoA racemase deficiency", "AMACR deficiency", "Refsum disease", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Primary hyperoxaluria type 1", "Acatalasemia", "Acatalasia", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS"
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 | NCT04152200 | November 2019 | 11 November 2019 | A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 | ILLUMINATE-C: A Single Arm Study to Evaluate Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 (PH1) | Primary Hyperoxaluria Type 1;Primary Hyperoxaluria | Drug: Lumasiran | Alnylam Pharmaceuticals | Not recruiting | N/A | N/A | All | 16 | Phase 3 | ||
| 2 | NCT04125472 | October 15, 2019 | 28 October 2019 | Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1 | Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria | Drug: Lumasiran | Alnylam Pharmaceuticals | Not recruiting | 6 Years | N/A | All | N/A | |||
| 3 | NCT03847909 | October 2019 | 7 October 2019 | A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 | A Phase 2 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria | Primary Hyperoxaluria Type 1 (PH1);Primary Hyperoxaluria Type 2 (PH2);Kidney Diseases;Urologic Diseases;Genetic Disease | Drug: DCR-PHXC;Drug: Sterile Normal Saline (0.9% NaCl) | Dicerna Pharmaceuticals, Inc. | Recruiting | 6 Years | N/A | All | 36 | Phase 2 | United States;Canada;France;New Zealand;Poland;United Kingdom | |
| 4 | NCT03905694 | April 22, 2019 | 22 October 2019 | A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1 | ILLUMINATE-B: An Open-Label Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria;Primary Hyperoxaluria Type 1 (PH1) | Drug: Lumasiran | Alnylam Pharmaceuticals | Recruiting | N/A | 5 Years | All | 20 | Phase 3 | United States;France;Germany;Israel;United Kingdom | |
| 5 | NCT03856866 | January 11, 2019 | 11 March 2019 | Hydroxychloroquine Administration for Reduction of Pexophagy | Hydroxychloroquine Administration for Reduction of Pexophagy | Zellweger Syndrome;Peroxisome Biogenesis Disorders | Drug: Placebo;Drug: Hydroxychloroquine | The Hospital for Sick Children | Recruiting | 6 Months | 40 Years | All | 5 | Phase 2 | 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 |
| 6 | NCT03681184 | November 27, 2018 | 28 October 2019 | A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 | ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study With an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria Type 1 (PH1) | Drug: Lumasiran;Drug: Sterile Normal Saline (0.9% NaCl) | Alnylam Pharmaceuticals | Not recruiting | 6 Years | N/A | All | 30 | Phase 3 | United States;France;Germany;Israel;Netherlands;Switzerland;United Arab Emirates;United Kingdom | |
| 7 | EUCTR2018-001981-40-DE | 7 January 2019 | A Phase 3 Study of an Investigational Drug, Lumasiran (ALN-GO1) with an Extended Dosing Period in Children and Adults with Primary Hyperoxaluria Type 1 Disease | ILLUMINATE-A: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study with an Extended Dosing Period to Evaluate the Efficacy and Safety of Lumasiran in Children and Adults with Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria Type 1 (PH1) MedDRA version: 20.1 Level: PT Classification code 10020703 Term: Hyperoxaluria System Organ Class: 10038359 - Renal and urinary disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: lumasiran Product Code: ALN-GO1 Pharmaceutical Form: Solution for injection INN or Proposed INN: lumasiran Current Sponsor code: ALN-GO1 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 189- Pharmaceutical form of the placebo: Solution for injection Route of administration of the placebo: Subcutaneous use | Alnylam Pharmaceuticals, Inc. | Not Available | Female: yes Male: yes | 30 | Phase 3 | France;United States;United Arab Emirates;Jordan;Israel;Netherlands;Germany;Japan;Switzerland | ||||
| 8 | EUCTR2016-003134-24-DE | 28/12/2017 | 30 April 2019 | Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients with Primary Hyperoxaluria Type 1 | A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients with Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria Type 1 (PH1) MedDRA version: 20.1 Level: PT Classification code 10020703 Term: Hyperoxaluria System Organ Class: 10038359 - Renal and urinary disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: ALN-GO1 Product Code: ALN-GO1 Pharmaceutical Form: Solution for injection INN or Proposed INN: ALN-65585 CAS Number: 1834610-13-7 Other descriptive name: ALN-65585 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 200- | Alnylam Pharmaceuticals, Inc. | Authorised | Female: yes Male: yes | 20 | Phase 2 | France;United States;United Arab Emirates;Jordan;Israel;Netherlands;Germany;United Kingdom | |||
| 9 | NCT03350451 | November 20, 2017 | 28 October 2019 | An Extension Study of an Investigational Drug, ALN-GO1, in Patients With Primary Hyperoxaluria Type 1 | A Phase 2, Multicenter, Open-Label, Extension Study to Evaluate the Long-Term Administration of ALN-GO1 in Patients With Primary Hyperoxaluria Type 1 | PH1;Primary Hyperoxaluria;RNAi Therapeutic;siRNA;AGT | Drug: ALN-GO1 | Alnylam Pharmaceuticals | Recruiting | 6 Years | N/A | All | 20 | Phase 2 | France;Germany;Israel;Netherlands;United Kingdom | |
| 10 | NCT02795325 | May 13, 2016 | 9 October 2018 | A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) | A Phase 1 Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) | Primary Hyperoxaluria Type 1 | Drug: DCR-PH1;Other: Placebo | Dicerna Pharmaceuticals, Inc. | Not recruiting | 12 Years | N/A | All | 41 | Phase 1 | Germany;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 |
| 11 | EUCTR2015-003142-51-GB | 11/04/2016 | 25 April 2016 | An Early Phase Study of DCR-PH1 in Patients with an Inherited Disorder Resulting in Overproduction of Oxalate | A Phase 1 Study of DCR-PH1 in Patients with Primary Hyperoxaluria Type 1 (PH1) | Primary Hyperoxaluria Type 1 MedDRA version: 18.0 Level: PT Classification code 10020703 Term: Hyperoxaluria System Organ Class: 10038359 - Renal and urinary disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: DCR-PH1 Pharmaceutical Form: Concentrate for solution for injection INN or Proposed INN: Not Yet Assigned CAS Number: NA Current Sponsor code: DCR-1171X Other descriptive name: DCR-1171X Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 2.0- | Dicerna Pharmaceuticals, Inc. | Authorised | Female: yes Male: yes | 42 | Phase 1 | France;United States;Israel;Netherlands;Germany;United Kingdom | |||
| 12 | EUCTR2015-004407-23-GB | 10/02/2016 | 7 January 2019 | The First-in-Human Study of an Investigational Drug, ALN-GO1, in Healthy Adult Subjects and Patients with Primary Hyperoxaluria Type 1 Disease | A Phase 1/2, Single-Blind, Placebo-Controlled, Single and Multiple Ascending Dose Safety, Tolerability, Pharmacokinetic and Pharmacodynamics Study of Subcutaneously Administered ALN-GO1 in Healthy Adult Subjects, and Patients with Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria Type 1 (PH1) MedDRA version: 20.1 Level: PT Classification code 10020703 Term: Hyperoxaluria System Organ Class: 10038359 - Renal and urinary disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: ALN-GO1 Product Code: ALN-GO1 Pharmaceutical Form: Solution for injection INN or Proposed INN: ALN-65585 Current Sponsor code: ALN-65585 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 200- Pharmaceutical form of the placebo: Solution for injection Route of administration of the placebo: Subcutaneous use | Alnylam Pharmaceuticals, Inc. | Authorised | Female: yes Male: yes | 52 | Phase 1;Phase 2 | France;United States;Jordan;Israel;Netherlands;Germany;United Kingdom | |||
| 13 | 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 | |
| 14 | 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 | |
| 15 | EUCTR2010-022046-25-NL | 2 October 2017 | Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum): biochemical and clinical effects. - Cholic acid in Zellweger | Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum): biochemical and clinical effects. - Cholic acid in Zellweger | Peroxisomal biogenesis disorder Synonym: Zellweger spectrum disorder This syndrome encompasses a spectrum of severity in symptoms Previously the disorder was subdivided into three disorders based on the severity of symptoms; Infantile Refsum disease (IRD) is the mildest form, neonatal adrenoleucodystrofia (NALD) has more severe symptoms and Zellweger syndrome has the most severe clinical symptoms. MedDRA version: 12.1 Level: LLT Classification code 10053706 Term: Zellweger syndrome MedDRA version: 12.1 Level: LLT Classification code 10038275 Term: Refsum's disease | Product Name: cholic acid Product Code: CA Pharmaceutical Form: Capsule* INN or Proposed INN: Cholic Acid CAS Number: 81254 Current Sponsor code: CA Other descriptive name: CHOLIC ACID Concentration unit: mg/kg milligram(s)/kilogram Concentration type: up to Concentration number: 10-20 | Department of Pediatric Gastroenterology, Academic Medical Centre | Not Available | Female: yes Male: yes | Phase 2 | 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 |
| 16 | NCT00004442 | September 1997 | 7 April 2015 | Study of Bile Acids in Patients With Peroxisomal Disorders | Infantile Refsum's Disease;Zellweger Syndrome;Bifunctional Enzyme Deficiency;Adrenoleukodystrophy | Drug: chenodeoxycholic acid;Drug: cholic acid;Drug: ursodiol | Children's Hospital Research Foundation University of Cincinnati | Children's Hospital Medical Center, Cincinnati | Not recruiting | N/A | 5 Years | Both | 25 | N/A | ||
| 17 | NCT00007020 | January 1992 | 19 February 2015 | Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid | Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism. This Study Was Previously Registered by the NCRR and Identified as NCRR-M01RR08084-0009 | Infantile Refsum's Disease;Zellweger Syndrome;Adrenoleukodystrophy;Peroxisomal Disorders;Cholestasis | Drug: Cholic Acids | Asklepion Pharmaceuticals, LLC | Children's Hospital Medical Center, Cincinnati | Not recruiting | N/A | N/A | Both | 79 | Phase 3 | United States |