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
48 clinical trials for this condition and its sub-types.
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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control TerminatedThis study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …
Phase: PHASE2, PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Scientists gather leftover surgical tissue to unlock secrets of bone disease
Knowledge-focused TerminatedThis study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC