RecruitingNot applicableNCT05394506
Neuromuscular
Emery-Dreifuss Muscular Dystrophy
Also known as EDMD, humeroperoneal muscular dystrophy
Emery-Dreifuss Muscular Dystrophy is characterised by the clinical triad of early joint contractures (elbows, ankles, and spine), slowly progressive humeroperoneal muscle weakness, and life-threatening cardiac disease including conduction d
ORPHA:261 ↗Gene EMDGene LMNAPrevalence 1 in 100,000Onset Childhood to early adolescenceX-linked recessive, autosomal dominant, or autosomal recessive
3
studies recruiting now
as of 7 Sept 2026
6
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
27 May 2022
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03058185
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
RecruitingNCT01403402
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy is characterised by the clinical triad of early joint contractures (elbows, ankles, and spine), slowly progressive humeroperoneal muscle weakness, and life-threatening cardiac disease including conduction defects and cardiomyopathy. It is caused by mutations in EMD (encoding emerin) in the X-linked form or LMNA (encoding lamins A/C) in autosomal forms. Sudden cardiac death due to complete heart block is a significant risk even in mildly affected individuals.
Common clinical features
Early rigid spine and elbow flexion contracturesHumeroperoneal pattern muscle weaknessProgressive atrioventricular conduction defectsDilated cardiomyopathyRigid spine with limited neck flexionFoot drop due to ankle contracturesSyncope or pre-syncope from arrhythmia
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Emery-Dreifuss Muscular Dystrophy. Not eligibility rules; those are set by each study.
- Cardiac eligibility is critical — most trials require a baseline 24-hour Holter monitor and echocardiogram; pacemaker or ICD presence may affect eligibility depending on the trial
- Genetic subtype (EMD vs LMNA) determines trial eligibility as laminopathies and emerin-deficiency have distinct mechanisms and separate trial pipelines
- Contracture severity graded by goniometry is a standard functional metric; document elbow and ankle range of motion formally before applying
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).