Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
MONDO:0013546Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
Also known as: MC5DN2, mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency, 3-MGCA type IV (3-MGCA-4) (formerly), TMEM70 defect, TMEM70-related mitochondrial encephalo-cardio-myopathy
13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 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