Mitochondrial DNA depletion syndrome, myopathic form
MONDO:0012301A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.
Also known as: thymidine kinase 2 deficiency, mitochondrial DNA depletion syndrome type 2, mtDNA depletion syndrome, myopathic form, MTDPS2, mitochondrial DNA depletion myopathy, Tk2-related, mitochondrial DNA depletion syndrome 2, mitochondrial DNA depletion syndrome 2 (myopathic type)
18 clinical trials for this condition and its sub-types, 4 tagged with Mitochondrial DNA depletion syndrome, myopathic form itself.
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New drug cocktail shows promise for rare muscle disease
Disease control CompletedThis phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the dru…
Phase 2 • Sponsor: UCB BIOSCIENCES, Inc. • Aim: Disease control
Last updated Sep 10, 2026 00:00 UTC
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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