Hypotonia with lactic acidemia and hyperammonemia
MONDO:0012718This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.
Also known as: COXPD5, MRPS22 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 5, combined oxidative phosphorylation deficiency caused by mutation in MRPS22, combined oxidative phosphorylation deficiency type 5, combined oxidative phosphorylation deficiency 5
13 clinical trials for this condition and its sub-types, 0 tagged with Hypotonia with lactic acidemia and hyperammonemia 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