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Combined oxidative phosphorylation defect type 27
MONDO:0014728Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.
Also known as: CARS2 combined oxidative phosphorylation deficiency, COXPD27, combined oxidative phosphorylation deficiency 27, combined oxidative phosphorylation deficiency caused by mutation in CARS2, combined oxidative phosphorylation deficiency type 27
13 clinical trials for this condition and its sub-types, 0 tagged with Combined oxidative phosphorylation defect type 27 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