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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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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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