Myopathy, lactic acidosis, and sideroblastic anemia 1
MONDO:0024553Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.
Also known as: PUS1 myopathy, lactic acidosis, and sideroblastic anaemia, PUS1 myopathy, lactic acidosis, and sideroblastic anemia, myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1, myopathy, lactic acidosis, and sideroblastic anemia 1, myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1, MLASA1, mitochondrial myopathy and sideroblastic anaemia, mitochondrial myopathy and sideroblastic anemia
118 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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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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Can extra care after transplant help older patients live better?
Disease control TerminatedThis study tested two extra care programs—supportive palliative care and clinical management of other health issues—for older or frail patients who had a donor stem cell transplant. The goal was to see if these programs could improve quality of life and survival compared to stand…
Phase: PHASE2, PHASE3 • Sponsor: Fred Hutchinson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 08:10 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