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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Two drugs aim to restore energy factories in rare muscle disease
Disease control Recruiting nowResearchers are testing a combination of two drugs, doxecitine and doxribtimine, in adults with thymidine kinase 2 (TK2) deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The study will enroll about 15 adults with moderate to severe disease.…
Phase 2 • Sponsor: Cristina Domínguez González • Aim: Disease control
Last updated Sep 19, 2026 00:00 UTC
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Rare disease drug now available through expanded access
Disease control Expanded accessThis program provides access to two experimental drugs, doxecitine and doxribtimine, for people with thymine kinase 2 deficiency (TK2d), a rare genetic disorder that can cause severe muscle weakness and early death. It is for children and adults who have a confirmed TK2 gene muta…
Sponsor: UCB BIOSCIENCES, Inc. • Aim: Disease control
Last updated Jun 27, 2026 13:03 UTC