Combined oxidative phosphorylation defect type 8
MONDO:0013570Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.
Also known as: AARS2 combined oxidative phosphorylation deficiency, COXPD8, combined oxidative phosphorylation deficiency caused by mutation in AARS2, combined oxidative phosphorylation deficiency type 8, cardiomyopathy, hypertrophic mitochondrial, fatal infantile, combined oxidative phosphorylation deficiency 8
13 clinical trials for this condition and its sub-types, 0 tagged with Combined oxidative phosphorylation defect type 8 itself.
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New drug aims to ease fatigue in mitochondrial disease
Symptom relief Recruiting nowThis Phase 2 trial tests whether KL1333 can reduce fatigue and improve leg strength in adults with primary mitochondrial disease, a genetic condition that affects energy production. About 180 participants will receive either KL1333 or a placebo twice daily for 48 weeks. The study…
Phase 2 • Sponsor: Pharming Technologies B.V. • Aim: Symptom relief
Last updated Jun 28, 2026 00:00 UTC
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NIH launches study to uncover link between infections and mitochondrial disease
Knowledge-focused Recruiting nowThis study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 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
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Blood and skin samples could unlock new mitochondrial disease treatments
Knowledge-focused Recruiting nowThis study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new the…
Sponsor: Minovia Therapeutics Ltd. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC