Barth syndrome
MONDO:0010543Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Also known as: 3-methylglutaconic aciduria type 2, BTHS, Barth syndrome, Barth syndrome, X-linked recessive, MGA2, X-linked cardioskeletal myopathy and neutropenia, cardioskeletal myopathy with neutropenia and abnormal mitochondria, cardioskeletal myopathy-neutropenia syndrome
29 clinical trials for this condition and its sub-types, 5 tagged with Barth syndrome itself.
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New shot aims to help kids with rare heart-muscle disease move easier
Disease control Recruiting nowThis study tests a daily injection called elamipretide in 48 people with genetically confirmed Barth syndrome, a rare condition that causes muscle weakness and heart problems. Participants will receive either the drug or a placebo for 72 weeks. The main goal is to see if the drug…
Phase 4 • Sponsor: Stealth BioTherapeutics Inc. • Aim: Disease control
Last updated Sep 19, 2026 00:00 UTC
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New drug aims to boost immune cells in rare blood disorder
Disease control Recruiting nowThis Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…
Phase 3 • Sponsor: X4 Pharmaceuticals • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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Worldwide data pool could pave the way for mitochondrial disease trials
Knowledge-focused Recruiting nowThis study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …
Sponsor: LMU Klinikum • Aim: Knowledge-focused
Last updated Aug 09, 2026 00:00 UTC
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Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders
Knowledge-focused Recruiting nowThis study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC