Disease & disorder
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
MONDO:1060109
A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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MONDO disease family
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Recruiting studies by city
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Trial status
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Trial phase
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Investigated drug interventions
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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.