Hereditary skeletal muscle disorder
MONDO:0700223An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.
Also known as: genetic muscle disease, genetic muscle disorder, genetic muscular disease, genetic muscular disorder, hereditary muscle disorder
406 clinical trials for this condition and its sub-types, 1 tagged with Hereditary skeletal muscle disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Hereditary skeletal muscle disorder
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Muscular dystrophy 74 trials · 290 incl. sub-types
11 sub-types
- DMD-related muscular dystrophy 0 trials · 146 incl. sub-types Sub-types →
- Progressive muscular dystrophy 2 trials · 125 incl. sub-types Sub-types →
- Congenital muscular dystrophy 1 trial · 10 incl. sub-types Sub-types →
- Distal myopathy 1 trial · 4 incl. sub-types Sub-types →
- LAMA2-related muscular dystrophy 2 trials · 3 incl. sub-types Sub-types →
- Fukuda-Miyanomae-Nakata syndrome 0 trials
- Muscular dystrophy, Barnes type 0 trials
- Muscular dystrophy, Hemizygous lethal type 0 trials
- Muscular dystrophy, Mabry type 0 trials
- Muscular dystrophy, cardiac type 0 trials
- Muscular dystrophy, progressive Pectorodorsal 0 trials
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Congenital myopathy 8 trials · 75 incl. sub-types
53 sub-types
- Congenital structural myopathy 5 trials · 62 incl. sub-types Sub-types →
- RYR1-related myopathy 5 trials · 6 incl. sub-types Sub-types →
- Centronuclear myopathy 2 trials · 5 incl. sub-types Sub-types →
- TTN-related myopathy 2 trials · 4 incl. sub-types Sub-types →
- TPM2-related myopathy 1 trial · 3 incl. sub-types Sub-types →
- SELENON-related myopathy 1 trial Sub-types →
- TOR1AIP1-related myopathy 0 trials · 1 incl. sub-types Sub-types →
- TPM3-related myopathy 1 trial Sub-types →
- Myopathy, congenital, with tremor 1 trial
- Bailey-Bloch congenital myopathy 0 trials
- Batten-Turner congenital myopathy 0 trials
- Bethlem myopathy 0 trials Sub-types →
- Compton-North congenital myopathy 0 trials
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 trials
- MEGF10-related myopathy 0 trials
- MYH7-related skeletal myopathy 0 trials
- SCN4A-related myopathy, autosomal recessive 0 trials Sub-types →
- Ullrich congenital muscular dystrophy 0 trials Sub-types →
- Alpha-actinopathy 0 trials Sub-types →
- Benign Samaritan congenital myopathy 0 trials
- Congenital generalized hypercontractile muscle stiffness syndrome 0 trials
- Congenital myopathy 10b, mild variant 0 trials
- Congenital myopathy 11 0 trials
- Congenital myopathy 15 0 trials
- Congenital myopathy 18 0 trials
- Congenital myopathy 20 0 trials
- Congenital myopathy 21 with early respiratory failure 0 trials
- Congenital myopathy 22A, classic 0 trials
- Congenital myopathy 22B, severe fetal 0 trials
- Congenital myopathy 25 0 trials
- Congenital myopathy 26 0 trials
- Congenital myopathy 27 0 trials
- Congenital myopathy 28 with rigid spine 0 trials
- Congenital myopathy 2b, severe infantile, autosomal recessive 0 trials
- Congenital myopathy 2c, severe infantile, autosomal dominant 0 trials
- Congenital myopathy 7A, myosin storage, autosomal dominant 0 trials
- Congenital myopathy with reduced type 2 muscle fibers 0 trials
- Cylindrical spirals myopathy 0 trials
- Fetal akinesia-cerebral and retinal hemorrhage syndrome 0 trials
- Fingerprint body myopathy 0 trials
- Hyaline body myopathy 0 trials
- Intellectual disability-myopathy-short stature-endocrine defect syndrome 0 trials
- Myopathy with hexagonally cross-linked tubular arrays 0 trials
- Myopathy, congenital proximal, with minicore lesions 0 trials
- Myopathy, congenital, progressive, with scoliosis 0 trials
- Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 0 trials
- Myopathy, congenital, with respiratory insufficiency and bone fractures 0 trials
- Myopathy, congenital, with structured cores and z-line abnormalities 0 trials
- Myopathy, myosin storage, autosomal recessive 0 trials
- Myopathy, proximal, and ophthalmoplegia 0 trials Sub-types →
- Reducing body myopathy 0 trials Sub-types →
- Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 0 trials
- Tubular aggregate myopathy 0 trials Sub-types →
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Congenital diaphragmatic hernia 45 trials
5 sub-types
- Diaphragmatic hernia 1 1 trial
- Diaphragmatic hernia 2 0 trials
- Diaphragmatic hernia 3 0 trials
- Diaphragmatic hernia 4, with cardiovascular defects 0 trials
- Hernia, anterior diaphragmatic 0 trials
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Myopathy caused by variation in FKRP 0 trials · 8 incl. sub-types
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Hereditary inclusion-body myopathy 1 trial · 6 incl. sub-types
8 sub-types
- GNE myopathy 3 trials
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 1 trial · 3 incl. sub-types Sub-types →
- X-linked myopathy with excessive autophagy 0 trials Sub-types →
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 0 trials
- Desmin-related myopathy with Mallory body-like inclusions 0 trials
- Hereditary inclusion body myopathy type 4 0 trials
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 0 trials
- Myopathy, myofibrillar, 9, with early respiratory failure 0 trials
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Poland syndrome 2 trials
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Myopathy caused by variation in FKTN 1 trial · 2 incl. sub-types
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Inherited rippling muscle disease 0 trials · 1 incl. sub-types
2 sub-types
- Rippling muscle disease 2 1 trial
- Rippling muscle disease 1 0 trials
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Myopathy caused by variation in CRPPA 0 trials · 1 incl. sub-types
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Myopathy caused by variation in GMPPB 0 trials · 1 incl. sub-types
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Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types
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Myopathy caused by variation in POMT1 0 trials · 1 incl. sub-types
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Myopathy caused by variation in POMT2 0 trials · 1 incl. sub-types
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Polyglucosan body myopathy 0 trials · 1 incl. sub-types
2 sub-types
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3 sub-types
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Brody myopathy 0 trials
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FHL1-related myopathy 0 trials
5 sub-types
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Wieacker-Wolff syndrome (spectrum) 0 trials
2 sub-types
- Wieacker-Wolff syndrome 0 trials
- Wieacker-Wolff syndrome, female-restricted 0 trials
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1 sub-type
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Myopathy, sarcoplasmic body 0 trials
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Myosclerosis 0 trials
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Potassium-aggravated myotonia 0 trials
3 sub-types
- Acetazolamide-responsive myotonia 0 trials
- Myotonia fluctuans 0 trials
- Myotonia permanens 0 trials
Most studied deeper sub-types
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DMD drug tested in wheelchair users – but trial stops early
Disease control Stopped earlyThis study tested the safety of golodirsen (Vyondys 53) in boys and men with Duchenne muscular dystrophy who can no longer walk. Only 2 people took part before the trial was stopped early. Participants received weekly IV infusions for up to 96 weeks, with extra follow-up. The goa…
Phase 4 • Sponsor: Rare Disease Research, LLC • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control Stopped earlyThis study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …
Phase 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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New drug OMS721 tested for rare kidney conditions
Disease control Stopped earlyThis study tested a drug called OMS721 in 31 people with certain kidney diseases, including IgA nephropathy and lupus nephritis. The main goal was to check if the drug is safe and if it reduces protein in the urine, a sign of kidney damage. The study was stopped early, so results…
Phase 2 • Sponsor: Omeros Corporation • Aim: Disease control
Last updated Jun 27, 2026 12:02 UTC
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Experimental gene therapy for rare muscle disease shows early promise but study halted
Disease control Stopped earlyThis study tested a gene therapy called SRP-9003 for people with limb-girdle muscular dystrophy type 2E (LGMD2E), a rare genetic disease that causes muscle weakness. The treatment aimed to deliver a working gene to muscle cells to help them produce a missing protein. Only 6 peopl…
Phase 1/2 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
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Experimental drug losmapimod tested in rare muscle disease – early hopes, but trial cut short
Disease control Stopped earlyThis study tested an experimental drug called losmapimod in 14 adults with FSHD1, a rare genetic condition that causes progressive muscle weakness. The main goal was to check safety and tolerability, and to see if the drug affects certain biological markers. The trial was termina…
Phase 2 • Sponsor: Fulcrum Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
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New drug trial for duchenne MD halted early – what we know
Disease control Stopped earlyThis phase 2 study tested a drug called PGN-EDO51 in 7 people with Duchenne muscular dystrophy whose genetic mutation can be corrected by skipping exon 51. The drug was given by IV infusion to see if it is safe and tolerable. The trial was terminated, so results are limited.
Phase 2 • Sponsor: PepGen Inc • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
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Experimental gene therapy for DMD hits antibody barrier – study halted
Disease control Stopped earlyThis study tested a gene therapy (delandistrogene moxeparvovec) combined with a drug called imlifidase to see if it could safely deliver the therapy to boys with Duchenne muscular dystrophy who had antibodies that might block the treatment. Only 5 participants were planned, but t…
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:59 UTC
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FSHD drug trial halted midway: what happened?
Disease control Stopped earlyThis study tested a drug called losmapimod for people with a rare muscle-weakening disease called FSHD. The goal was to see if the drug could slow muscle loss and improve arm function over 48 weeks. About 260 adults with FSHD were randomly assigned to receive either losmapimod or…
Phase 3 • Sponsor: Fulcrum Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:56 UTC
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Experimental gene therapy targets duchenne MD in young boys
Disease control Stopped earlyThis Phase 2 trial tested a single dose of gene therapy (fordadistrogene movaparvovec) in 10 boys with early-stage Duchenne muscular dystrophy. The goal was to check safety and whether the therapy could help muscles produce a mini-dystrophin protein. The study was terminated earl…
Phase 2 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Gene therapy for duchenne muscular dystrophy under Long-Term watch
Disease control Stopped earlyThis study follows 7 people with Duchenne muscular dystrophy who previously received an experimental gene therapy called fordadistrogene movaparvovec. Researchers will monitor them for 10 years to check for side effects and see if the treatment continues to help with movement. Th…
Phase 3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Experimental drug losmapimod tested for rare muscle disease
Disease control Stopped earlyThis phase 2 trial tested the drug losmapimod in 76 adults with FSHD, a genetic condition that causes progressive muscle weakness. Participants took either losmapimod or a placebo for 48 weeks to see if the drug was safe and could help control the disease. The study was terminate…
Phase 2 • Sponsor: Fulcrum Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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Gene therapy trial for duchenne MD halted early – what we know
Disease control Stopped earlyThis early-stage trial tested a single infusion of gene therapy (PF-06939926) in 23 people with Duchenne muscular dystrophy, both those who could still walk and those who could not. The main goal was to check safety and tolerability, while also measuring dystrophin protein levels…
Phase 1 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 26, 2026 17:12 UTC
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Can plasma exchange clear the way for gene therapy in duchenne?
Disease control Stopped earlyThis early study tested whether a blood-cleaning procedure called plasmapheresis could allow boys with Duchenne muscular dystrophy who have antibodies against the gene therapy carrier to still receive the treatment. Only 3 boys were enrolled before the study was stopped early. Th…
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 14:20 UTC
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Experimental gene therapy for rare muscle disease tested in just 2 people
Disease control Stopped earlyThis was a very early (Phase 1) study testing a gene therapy called SRP-6004 for people with limb girdle muscular dystrophy type 2B/R2, a rare muscle-weakening disease. The goal was to see if a single IV infusion of the therapy is safe and can help the body produce a missing prot…
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 14:20 UTC
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Experimental gene therapy tested for rare muscular dystrophy
Disease control Stopped earlyThis early-stage trial tested a gene therapy called SRP-9004 in just 4 people with limb girdle muscular dystrophy type 2D/R3, a rare muscle-weakening disease. The main goal was to check safety, not effectiveness. The study was terminated early, so results are limited.
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 13:47 UTC
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Gut hormone shot aims to strengthen fragile bones in kids with muscle diseases
Knowledge-focused Stopped earlyThis study tested whether two gut hormones, GIP and GLP-2, could reduce bone breakdown in children with spinal muscular atrophy, cerebral palsy, or Duchenne muscular dystrophy who use wheelchairs. Participants received a liquid meal and then either a hormone injection or a placeb…
Sponsor: University of Copenhagen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:08 UTC
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One-Person study aims to unlock FSHD mysteries
Knowledge-focused Stopped earlyThis study looked at one person with facioscapulohumeral muscular dystrophy (FSHD) to better understand the disease. Researchers examined muscle tissue and checked for specific biomarkers. The goal was to learn more about how FSHD affects the body, not to test a treatment.
Sponsor: Nationwide Children's Hospital • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:43 UTC