324. メチルグルタコン酸尿症 Methylglutaconic aciduria Clinical trials / Disease details
臨床試験数 : 4 / 薬物数 : 4 - (DrugBank : 3) / 標的遺伝子数 : 1 - 標的パスウェイ数 : 10
| 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 | NCT04689360 (ClinicalTrials.gov) | December 23, 2020 | 23/12/2020 | An Intermediate Size Expanded Access Protocol of Elamipretide | An Intermediate Size Expanded Access Protocol of Elamipretide for Subcutaneous Injection in Patients With Genetically Confirmed Rare Diseases With Known Mitochondrial Dysfunction | Mitochondrial Diseases;Barth Syndrome | Drug: elamipretide | Stealth BioTherapeutics Inc. | NULL | Available | 1 Year | 80 Years | All | NULL | ||
| 2 | EUCTR2015-001382-10-GB (EUCTR) | 21/01/2019 | 24/08/2015 | A study comparing the drug 'bezafibrate' against a placebo in the treatment of Barth Syndrome | Treatment of Barth Syndrome by CARDIOlipin MANipulation (CARDIOMAN): A randomised placebo controlled pilot trial conducted by the nationally commissioned Barth Syndrome Service - CARDIOMAN | Barth Syndrome is a rare, life threatening, genetic disease which affects young males. It is caused by abnormal fats (lipids) in the powerhouses of cells (mitochondria) and those who suffer with it often develop heart failure, heart rhythm abnormalities, bacterial infections, poor growth or feeding, weak muscles, developmental delay, severe exercise intolerance, lethargy and fatigue. 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] | Trade Name: Bezafibrate Product Name: Bezafibrate INN or Proposed INN: Bezafibrate (INN 3968) | University Hospitals Bristol NHS Foundation Trust | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 15 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United Kingdom | ||
| 3 | NCT03098797 (ClinicalTrials.gov) | May 1, 2017 | 21/3/2017 | A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome | A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Trial to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Injections of Elamipretide (MTP-131) in Subjects With Genetically Confirmed Barth Syndrome Followed by an Open-Label Treatment Extension | Barth Syndrome | Drug: Elamipretide | Stealth BioTherapeutics Inc. | NULL | Completed | 12 Years | N/A | Male | 12 | Phase 2/Phase 3 | United States |
| 4 | NCT01461304 (ClinicalTrials.gov) | April 17, 2009 | 25/10/2011 | Dietary Therapy for Inherited Disorders of Energy Metabolism | Dietary Therapy for Inherited Disorders of Energy Metabolism | Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);Mitochondrial Trifunctional Protein Deficiency;Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;Glycogen Storage Disorders;Pyruvate Carboxylase Deficiency Disease;ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of;Barth Syndrome | Drug: triheptanoin | Jerry Vockley, MD, PhD | Ultragenyx Pharmaceutical Inc | No longer available | 1 Month | N/A | All | United States |