Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
MONDO:0014175An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
Also known as: MTDPS12B, mitochondrial DNA depletion syndrome 12, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, MTDPS12, mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), mitochondrial DNA depletion syndrome type 12
13 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: PHASE2 • 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: PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC