Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
MONDO:0012512Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Also known as: TSFM combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency caused by mutation in TSFM, combined oxidative phosphorylation deficiency type 3, fatal mitochondrial disease due to COXPD3, COXPD3, combined oxidative phosphorylation deficiency 3, concentric cardiomyopathy, hypotonia, and lactic acidosis, encephalomyopathy, respiratory failure, and lactic acidosis
13 clinical trials for this condition and its sub-types, 0 tagged with Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 itself.
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase 2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC