Congenital structural myopathy
MONDO:0002921A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.
Also known as: centronuclear myopathy
65 clinical trials for this condition and its sub-types, 5 tagged with Congenital structural myopathy itself.
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Sub-types of Congenital structural myopathy
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Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types
24 sub-types
- Mitochondrial encephalomyopathy 3 trials · 15 incl. sub-types Sub-types →
- Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types Sub-types →
- Barth syndrome 5 trials
- Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
- Mitochondrial trifunctional protein deficiency 3 trials Sub-types →
- Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
- Adenosine monophosphate deaminase deficiency 1 trial
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
- COX deficiency, benign infantile mitochondrial myopathy 0 trials
- X-linked recessive mitochondrial myopathy 0 trials
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 0 trials Sub-types →
- Autosomal dominant mitochondrial myopathy with exercise intolerance 0 trials
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
- Fatal infantile encephalocardiomyopathy 0 trials Sub-types →
- Lethal infantile mitochondrial myopathy 0 trials
- Maternally-inherited progressive external ophthalmoplegia 0 trials
- Mitochondrial complex I deficiency, nuclear type 1 0 trials
- Mitochondrial complex II deficiency, nuclear type 0 trials Sub-types →
- Mitochondrial myopathy with a defect in mitochondrial-protein transport 0 trials
- Mitochondrial myopathy with diabetes 0 trials
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 0 trials
- Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0 trials
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 trials
- Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 trials
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Nemaline myopathy 13 trials
8 sub-types
- Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
- Nemaline myopathy 5 2 trials
- Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types Sub-types →
- MYPN-related myopathy 0 trials
- Adult-onset nemaline myopathy 0 trials
- Nemaline myopathy 5B, autosomal recessive, childhood-onset 0 trials
- Nemaline myopathy 5C, autosomal dominant 0 trials
- Typical nemaline myopathy 0 trials Sub-types →
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Myofibrillar myopathy 1 trial · 3 incl. sub-types
13 sub-types
- Central core myopathy 2 trials
- Fatal infantile hypertonic myofibrillar myopathy 0 trials
- Myofibrillar myopathy 1 0 trials
- Myofibrillar myopathy 10 0 trials
- Myofibrillar myopathy 11 0 trials
- Myofibrillar myopathy 3 0 trials
- Myofibrillar myopathy 4 0 trials
- Myofibrillar myopathy 5 0 trials
- Myofibrillar myopathy 6 0 trials
- Myofibrillar myopathy 7 0 trials Sub-types →
- Myofibrillar myopathy 8 0 trials
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0 trials
- Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
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1 sub-type
Most studied deeper sub-types
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Experimental gene therapy aims to help boys with rare muscle disease breathe easier
Disease control Recruiting nowThis early-phase trial tests a new gene therapy called ASP2957 for X-linked myotubular myopathy (XLMTM), a rare muscle disease present at birth that often requires a ventilator to breathe. The therapy delivers a healthy copy of the MTM1 gene using a modified virus. Nine boys up t…
Phase 1/2 • Sponsor: Astellas Gene Therapies • Aim: Disease control
Last updated Sep 05, 2026 00:00 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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New study aims to uncover hidden liver risks in rare muscle disease
Knowledge-focused Recruiting nowThis study follows about 50 boys under 18 with X-linked myotubular myopathy (XLMTM), a rare genetic muscle condition, to see how often they develop liver problems like cholestasis. No drugs are given—researchers simply collect health data, including liver scans, over one year. Th…
Sponsor: Astellas Gene Therapies • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
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Gene hunt for rare muscle diseases could unlock future treatments
Knowledge-focused Recruiting nowThis research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC