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HSD10 mitochondrial disease
MONDO:0010327A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
Also known as: 17-beta-hydroxysteroid dehydrogenase 10 deficiency, 17-beta-hydroxysteroid dehydrogenase X deficiency, 2-methyl-3-hydroxybutyric aciduria, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, 3-hydroxyacyl-CoA dehydrogenase 2 deficiency, HSD10 deficiency, HSD10 mitochondrial disease, HSD10 mitochondrial disease, X-linked dominant
13 clinical trials for this condition and its sub-types, 0 tagged with HSD10 mitochondrial disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of HSD10 mitochondrial disease
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HSD10 disease, atypical type 0 trials
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HSD10 disease, infantile type 0 trials
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HSD10 disease, neonatal type 0 trials
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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