Hereditary myopathy with lactic acidosis due to ISCU deficiency
MONDO:0009706Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Also known as: ISCU myopathy, aconitase deficiency, iron-sulfur cluster deficiency myopathy, myopathy with exercise intolerance, Swedish type, HML, myoglobinuria due to abnormal glycolysis, myopathy with deficiency of succinate dehydrogenase and aconitase, myopathy with lactic acidosis, hereditary
15 clinical trials for this condition and its sub-types.
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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