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.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
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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Last chance access: vatiquinone for mitochondrial disease patients
Disease control Expanded access (ended)This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…
Sponsor: Medical University of South Carolina • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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Experimental treatment aims to boost mitochondrial DNA in rare disease
Disease control OngoingThis study tests two natural substances, deoxythymidine and deoxycytidine, in people with TK2 deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The goal is to see if these nucleotide precursors can help cells make more mitochondrial DNA and …
Phase 1/2 • Sponsor: Columbia University • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New study tests workplace coaching to keep Parkinson's patients on the job
Symptom relief OngoingThis study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…
Sponsor: Radboud University Medical Center • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC
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New program aims to ease burden on families of kids with rare diseases
Symptom relief By invitation onlyThis study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …
Sponsor: Children's National Research Institute • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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MRI scans could unlock secrets of rare muscle disease
Knowledge-focused By invitation onlyThis study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Massive gene hunt launched for mysterious mitochondrial diseases
Knowledge-focused By invitation onlyThis study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC
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Tiny power plants in cells may weaken bones, new study hints
Knowledge-focused OngoingThis study looks at how problems with mitochondria—the tiny power plants inside cells—might affect bone health. Researchers will compare 30 people with certain genetic changes that cause mitochondrial dysfunction to healthy volunteers. They will take blood, bone marrow, and bone …
Sponsor: Aalborg University Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC