Congenital myopathy
MONDO:0019952Also known as: congenital myopathy, Batten Turner congenital myopathy, myopathy congenital
76 clinical trials for this condition and its sub-types, 8 tagged with Congenital myopathy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Congenital myopathy
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Congenital structural myopathy 5 trials · 62 incl. sub-types
6 sub-types
- Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types Sub-types →
- Nemaline myopathy 13 trials Sub-types →
- Myofibrillar myopathy 1 trial · 3 incl. sub-types Sub-types →
- Congenital fiber-type disproportion myopathy 1 trial Sub-types →
- Autosomal dominant centronuclear myopathy 0 trials
- Autosomal dominant nebulin-related myopathy 0 trials
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RYR1-related myopathy 5 trials · 6 incl. sub-types
5 sub-types
- Central core myopathy 2 trials
- King-Denborough syndrome 0 trials
- Congenital multicore myopathy with external ophthalmoplegia 0 trials
- Congenital myopathy with myasthenic-like onset 0 trials
- Rhabdomyolysis-myalgia syndrome 0 trials
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Centronuclear myopathy 2 trials · 5 incl. sub-types
5 sub-types
- X-linked myotubular myopathy 4 trials Sub-types →
- Autosomal dominant centronuclear myopathy 0 trials
- Autosomal recessive centronuclear myopathy 0 trials Sub-types →
- Congenital myopathy with internal nuclei and atypical cores 0 trials
- Myopathy, centronuclear, 6, with fiber-type disproportion 0 trials
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TTN-related myopathy 2 trials · 4 incl. sub-types
2 sub-types
- Autosomal recessive titinopathy 0 trials · 2 incl. sub-types Sub-types →
- Autosomal dominant titinopathy 0 trials Sub-types →
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TPM2-related myopathy 1 trial · 3 incl. sub-types
2 sub-types
- Central core myopathy 2 trials
- Congenital myopathy 23 0 trials
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SELENON-related myopathy 1 trial
1 sub-type
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TPM3-related myopathy 1 trial
3 sub-types
- Cap myopathy 0 trials
- Congenital myopathy 4A, autosomal dominant 0 trials
- Congenital myopathy 4B, autosomal recessive 0 trials
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TOR1AIP1-related myopathy 0 trials · 1 incl. sub-types
1 sub-type
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Bailey-Bloch congenital myopathy 0 trials
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Batten-Turner congenital myopathy 0 trials
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Bethlem myopathy 0 trials
4 sub-types
- Bethlem myopathy 1A 0 trials
- Bethlem myopathy 1B 0 trials
- Bethlem myopathy 1C 0 trials
- Bethlem myopathy 2 0 trials
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Compton-North congenital myopathy 0 trials
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MEGF10-related myopathy 0 trials
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MYH7-related skeletal myopathy 0 trials
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1 sub-type
- Congenital myasthenic syndrome 16 0 trials
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4 sub-types
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Alpha-actinopathy 0 trials
4 sub-types
- Cap myopathy 0 trials
- Congenital myopathy 2a, typical, autosomal dominant 0 trials
- Progressive scapulohumeroperoneal distal myopathy 0 trials
- Zebra body myopathy 0 trials
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Benign Samaritan congenital myopathy 0 trials
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Congenital myopathy 11 0 trials
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Congenital myopathy 15 0 trials
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Congenital myopathy 18 0 trials
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Congenital myopathy 20 0 trials
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Congenital myopathy 22A, classic 0 trials
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Congenital myopathy 25 0 trials
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Congenital myopathy 26 0 trials
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Congenital myopathy 27 0 trials
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Cylindrical spirals myopathy 0 trials
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Fingerprint body myopathy 0 trials
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Hyaline body myopathy 0 trials
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Reducing body myopathy 0 trials
2 sub-types
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Tubular aggregate myopathy 0 trials
2 sub-types
- Myopathy, tubular aggregate, 1 0 trials
- Myopathy, tubular aggregate, 2 0 trials
Most studied deeper sub-types
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New pill hopes to ease rare mitochondrial disease
Disease control CompletedThis study tests an oral drug called TTI-0102 in 12 people with MELAS, a rare genetic disorder that causes muscle weakness, strokes, and fatigue. Participants receive either the drug or a placebo for 6 months. Researchers will measure walking ability, fatigue, and quality of life…
Phase 2 • Sponsor: Thiogenesis Therapeutics, Inc. • Aim: Disease control
Last updated Jul 26, 2026 00:00 UTC
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New pill aims to ease fatigue and brain fog in rare mitochondrial disease
Disease control CompletedThis Phase 2b trial tests an oral drug called zagociguat in 43 adults with MELAS syndrome, a rare genetic disorder that causes fatigue, muscle weakness, and stroke-like episodes. Participants take either 15 mg, 30 mg, or a placebo daily for 12 weeks. The study measures changes in…
Phase 2 • Sponsor: Tisento Therapeutics • Aim: Disease control
Last updated Jul 09, 2026 00:00 UTC
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Could a High-Fat diet help kids with rare energy disorder?
Disease control CompletedThis study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…
Sponsor: University Hospital, Lille • Aim: Disease control
Last updated Jun 27, 2026 12:23 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
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Robotic leg device shows promise for helping muscle disease patients walk
Symptom relief CompletedThis study tested a powered leg exoskeleton (Keeogo) in 50 people with various muscle disorders to see if it is safe and helps them walk better. Participants performed walking tests with and without the device. The goal was to see if the device could improve walking distance and …
Sponsor: Institut de Myologie, France • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 UTC
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Robotic exoskeleton shows promise for muscle disease patients
Symptom relief CompletedThis study tested a wearable robotic suit called MyoSuit that assists knee and hip movement in people with various muscle disorders. 32 participants used the device to perform walking tests, and researchers checked for safety and any immediate improvements in walking ability. The…
Sponsor: Institut de Myologie, France • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 UTC
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Scientists track rare muscle disease to unlock its secrets
Knowledge-focused CompletedThis study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Tiny study probes muscle oxygen in rare nerve and muscle diseases
Knowledge-focused CompletedThis completed study looked at how muscle oxygen levels change during exercise in people with various neuromuscular diseases compared to healthy volunteers. Seventeen participants did a knee-extension exercise while a device measured muscle oxygen. The goal was to understand diff…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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Health warnings in booze app put to the test
Knowledge-focused CompletedThis study looked at whether showing health warning messages in a mobile app where people buy alcohol affects their purchasing. Over 11,700 adults in Sweden took part. One group saw rotating health warnings, while the other saw standard messages. The researchers tracked purchases…
Sponsor: World Health Organization • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Can a breath test reveal how muscles make energy? tiny study explores new way to track treatment effects
Knowledge-focused CompletedThis small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…
Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC