Inborn mitochondrial myopathy
MONDO:0009637Myopathy caused by mitochondrial abnormalities.
Also known as: mitochondrial myopathy
56 clinical trials for this condition and its sub-types, 18 tagged with Inborn mitochondrial myopathy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Inborn mitochondrial myopathy
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Mitochondrial encephalomyopathy 3 trials · 15 incl. sub-types
2 sub-types
- MELAS syndrome 13 trials · 14 incl. sub-types Sub-types →
- MERRF syndrome 5 trials
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Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types
3 sub-types
- Kearns-Sayre syndrome 5 trials
- Progressive external ophthalmoplegia with mitochondrial DNA deletions 0 trials · 2 incl. sub-types Sub-types →
- Autosomal recessive progressive external ophthalmoplegia 0 trials Sub-types →
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Barth syndrome 5 trials
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4 sub-types
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2 sub-types
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3 sub-types
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1 sub-type
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4 sub-types
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 trials
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 trials
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 0 trials
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 trials
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4 sub-types
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Mitochondrial myopathy with diabetes 0 trials
Most studied deeper sub-types
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New hope for MELAS: experimental drug tested for Long-Term safety
Disease control OngoingThis study is testing the long-term safety of a daily oral drug called zagociguat in 44 adults with MELAS, a rare genetic disease that affects energy production in cells. All participants previously completed a lead-in study of the same drug. Researchers will monitor side effects…
Phase 2 • Sponsor: Tisento Therapeutics • Aim: Disease control
Last updated Jul 09, 2026 00:00 UTC
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New study tracks Long-Term safety of rare disease treatment
Disease control OngoingThis study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…
Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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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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Could stem cells slow MSA? new trial tests safety and effects
Disease control OngoingThis study tests whether a person's own stem cells can be safely injected into the spinal fluid to treat multiple system atrophy (MSA), a rare and serious brain disease. About 30 adults aged 30-80 with MSA will receive the treatment. The main goal is to check for side effects, an…
Phase 1/2 • Sponsor: Mayo Clinic • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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Can a vitamin B3 pill help people with rare muscle disease?
Disease control OngoingThis study tests whether nicotinamide riboside, a form of vitamin B3, can improve walking distance and muscle function in adults with mitochondrial myopathy, a rare muscle disorder. Thirty-four participants receive either the supplement or a placebo for several months. The main g…
Phase 2 • Sponsor: Ralitza Gavrilova • Aim: Disease control
Last updated Jun 27, 2026 08:14 UTC
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New stem cell approach aims to tame rare genetic diseases
Disease control OngoingThis study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…
Phase 2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 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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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