Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
MONDO:0011421Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
Also known as: mitochondrial complex V deficiency, ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency, MC5DN1, mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2, Complex 5 mitochondrial respiratory chain deficiency, mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type, mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1
13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 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