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HSD10 mitochondrial disease

MONDO:0010327

A 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.

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Part of

↑ Hereditary neurological disease (5791) ↑ Inborn mitochondrial metabolism disorder (127)

Sub-types of HSD10 mitochondrial disease

Including sub-types (13) Tagged with HSD10 mitochondrial disease (0)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 4 Completed 2 Terminated 1

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

Disease control Stopped early

This 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 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC

HSD10 mitochondrial disease

Where it sits in the disease tree

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders