324. メチルグルタコン酸尿症
［臨床試験数：3，薬物数：4（DrugBank：3），標的遺伝子数：1，標的パスウェイ数：8］
Searched query = "Methylglutaconic aciduria", "3-methylglutaconyl-CoA hydratase deficiency", "3-MGA", "Barth syndrome", "Costeff syndrome", "Mitochondrial respiratory chain disorder", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.
| 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 | 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] | University Hospitals Bristol NHS Foundation Trust | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 15 | Phase 2 | United Kingdom | |||
| 2 | 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 | Active, not recruiting | 12 Years | N/A | Male | 12 | Phase 2;Phase 3 | United States |
| 3 | NCT01461304 (ClinicalTrials.gov) | November 30, 2011 | 25/10/2011 | Compassionate Use of Triheptanoin (C7) 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 | Available | 1 Month | N/A | All | United States |