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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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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Mini muscle sensor could unlock mitochondrial disease diagnosis
Diagnosis Recruiting nowThis study is testing a small device called a nanosensor that measures oxygen levels in muscle tissue. The goal is to see if it can accurately assess mitochondrial function in people with mitochondrial myopathy compared to healthy volunteers. If it works, this sensor could become…
Phase 1 • Sponsor: Children's Hospital of Philadelphia • Aim: Diagnosis
Last updated Jun 27, 2026 09:06 UTC
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Mini muscle sensor could spot mitochondrial disease
Diagnosis Recruiting nowThis early-stage study tests a small nanosensor placed under the skin in the forearm to measure oxygen levels in muscle, which reflects how well mitochondria are working. Researchers will compare results from 24 people—some with mitochondrial myopathy and some healthy—to see if t…
Phase 1 • Sponsor: Children's Hospital of Philadelphia • Aim: Diagnosis
Last updated Jun 27, 2026 09:05 UTC
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Home workouts with video coaching tested for rare muscle disease
Symptom relief Recruiting nowThis study tests whether a personalized mix of endurance and strength exercises, done at home with video check-ins, can improve mobility and muscle strength in people with mitochondrial myopathy. Fifteen adults with confirmed genetic mutations will follow the program for up to 12…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Symptom relief
Last updated Jun 27, 2026 14:02 UTC
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Shocking muscles to move: new exercise hope for nerve disease patients
Symptom relief Recruiting nowThis study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…
Sponsor: University of Missouri-Columbia • Aim: Symptom relief
Last updated Jun 27, 2026 11:03 UTC
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Major study tracks rare muscle disease to pave way for future treatments
Knowledge-focused Recruiting nowThis observational study aims to better understand primary mitochondrial myopathy, a rare muscle disease. Researchers will follow 1300 patients and healthy controls, measuring muscle strength, balance, and daily function over time. The goal is to develop and validate tools to tra…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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Massive study seeks answers for rare inherited nerve diseases
Knowledge-focused Recruiting nowThis study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Can we map the course of a rare mitochondrial disease?
Knowledge-focused Recruiting nowThis global study follows people with POLG-related disorders, a group of rare mitochondrial conditions, to understand how the disease progresses over time. By observing clinical changes in up to 300 participants of all ages, researchers aim to identify key milestones that could s…
Sponsor: The POLG Foundation • Aim: Knowledge-focused
Last updated Sep 17, 2026 00:00 UTC
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Worldwide data pool could pave the way for mitochondrial disease trials
Knowledge-focused Recruiting nowThis study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …
Sponsor: LMU Klinikum • Aim: Knowledge-focused
Last updated Aug 09, 2026 00:00 UTC
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Exercise study aims to unlock Muscle-Nerve secrets in rare disease
Knowledge-focused Recruiting nowThis study looks at how exercise training changes muscle cells in people with mitochondrial myopathy, a rare disease that affects energy production. Researchers will compare a trained leg to an untrained leg in the same person, and also compare results with healthy volunteers. Th…
Sponsor: University of Copenhagen • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders
Knowledge-focused Recruiting nowThis study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC
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Could a vibrating bed help mitochondrial disease patients?
Knowledge-focused Recruiting nowThis study looks at whether a special bed that gently moves your legs (passive exercise) can improve how the body uses oxygen in people with mitochondrial disease. Researchers will compare patients to healthy volunteers and also test the bed in children in the ICU. The goal is to…
Phase 1 • Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC
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New study tracks rare muscle disease to pave way for future treatments
Knowledge-focused Recruiting nowThis study follows 150 people with primary mitochondrial myopathy, a rare genetic muscle disease, to understand how the condition changes over time. Researchers will measure muscle function, biomarkers, and imaging to find signs of disease progression. The goal is to identify use…
Sponsor: Cristina Domínguez González • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:07 UTC