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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Experimental drug aims to boost energy in rare genetic disorders
Disease control Not yet recruitingThis study tests an oral drug called glycerol tributyrate in 24 adults with MELAS or LHON-Plus, two rare mitochondrial diseases that cause severe symptoms like strokes and vision loss. The trial is open-label (everyone gets the drug) and uses each person as their own control over…
Phase 1/2 • Sponsor: George Washington University • Aim: Disease control
Last updated Jun 27, 2026 13:02 UTC
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Could your own stem cells fight this rare brain disorder?
Disease control Not yet recruitingThis study tests whether a person's own stem cells, processed and given by IV, can safely help with multiple system atrophy (MSA) — a rare, worsening brain disease that affects movement and automatic body functions like blood pressure. Fifty adults aged 35 to 65 will receive eith…
Phase 2 • Sponsor: Biocells Medical • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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Can a common asthma drug help newborns breathe easier?
Symptom relief Not yet recruitingThis study tests whether inhaled salbutamol, a drug used for asthma, can reduce breathing distress in newborns with transient tachypnea of the newborn (TTN). TTN is a common lung condition after birth where fluid stays in the lungs, causing fast breathing. The trial will enroll j…
Sponsor: Tishreen University • Aim: Symptom relief
Last updated Jun 27, 2026 08:12 UTC
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Hidden brain disease study aims to prevent stroke and dementia
Knowledge-focused Not yet recruitingThis study looks at people aged 65 and older who have signs of brain blood vessel disease on a past scan but no history of stroke, dementia, or other major brain conditions. Researchers will collect information on daily function, thinking skills, speech, and any new vascular even…
Sponsor: University of Edinburgh • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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Rare muscle disease study aims to pave way for future treatments
Knowledge-focused Not yet recruitingThis study follows up to 10 people of any age with nemaline myopathy, a rare muscle disease, for three years. Researchers will collect information during regular hospital visits to understand how the disease changes over time. The goal is to find better ways to measure disease pr…
Sponsor: Centre Hospitalier Universitaire de Liege • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC