Mitochondrial DNA depletion syndrome
MONDO:0018158The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
Also known as: mtDNA depletion syndrome
20 clinical trials for this condition and its sub-types, 3 tagged with Mitochondrial DNA depletion syndrome itself.
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Browse by category →Sub-types of Mitochondrial DNA depletion syndrome
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Mitochondrial DNA depletion syndrome, hepatocerebral form 0 trials · 4 incl. sub-types
5 sub-types
- Mitochondrial DNA depletion syndrome 4a 3 trials
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 1 trial
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 trials
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 trials
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 0 trials
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2 sub-types
- Optic atrophy 12 0 trials
- Spastic ataxia 5 0 trials
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Sengers syndrome 0 trials
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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
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New drug aims to help mitochondrial disease patients walk farther
Disease control CompletedThis Phase 3 trial tested a daily injection called elamipretide in 102 adults with primary mitochondrial myopathy, a genetic condition that causes muscle weakness and fatigue. Participants received either the drug or a placebo for 48 weeks. The main goal was to see if the drug co…
Phase 3 • Sponsor: Stealth BioTherapeutics Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC