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.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT04689360
(ClinicalTrials.gov)
December 23, 202023/12/2020An Intermediate Size Expanded Access Protocol of ElamipretideAn Intermediate Size Expanded Access Protocol of Elamipretide for Subcutaneous Injection in Patients With Genetically Confirmed Rare Diseases With Known Mitochondrial DysfunctionMitochondrial Diseases;Barth SyndromeDrug: elamipretideStealth BioTherapeutics Inc.NULLAvailable1 Year80 YearsAllNULL
2EUCTR2015-001382-10-GB
(EUCTR)
21/01/201924/08/2015A study comparing the drug 'bezafibrate' against a placebo in the treatment of Barth SyndromeTreatment 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 TrustNULLAuthorised-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): noUnited Kingdom
3NCT03098797
(ClinicalTrials.gov)
May 1, 201721/3/2017A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth SyndromeA 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 ExtensionBarth SyndromeDrug: ElamipretideStealth BioTherapeutics Inc.NULLCompleted12 YearsN/AMale12Phase 2/Phase 3United States
4NCT01461304
(ClinicalTrials.gov)
April 17, 200925/10/2011Dietary Therapy for Inherited Disorders of Energy MetabolismDietary Therapy for Inherited Disorders of Energy MetabolismVery 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 SyndromeDrug: triheptanoinJerry Vockley, MD, PhDUltragenyx Pharmaceutical IncNo longer available1 MonthN/AAllUnited States