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Clinical trial Recruiting at 1 site Observational

Long-term observation of congenital muscle diseases

Official title: Congenital Muscle Disease Patient and Proxy Reported Outcome Study

Run by Cure CMD · NCT01403402 · Data updated 2026-11-12

This study is trying to learn more about congenital muscle diseases by collecting information from patients over 10 years to help improve care and treatment options.

More Merosin Deficient CMD (Full or Partial) trials

Quick facts

Study typeObservational
SexAll
Enrollment4000 (estimated)
SponsorCure CMD
Academic / other
Locations1 site (Lakewood, California)
StatusRecruiting
StartedSeptember 2009
Main results expectedSeptember 2029
Study endsSeptember 2029
Registry record updatedAugust 9, 2021
Trial IDNCT01403402 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include individuals diagnosed with congenital muscular dystrophy, congenital myopathy, or congenital myasthenic syndrome.

Probably not a fit

Patients with unrelated neuromuscular conditions or those without a clinical diagnosis of congenital muscle diseases may not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal observational study that spans 10 years, focusing on identifying care parameters and adverse events in congenital muscle diseases. Utilizing the Congenital Muscle Disease International Registry (CMDIR), the study aims to gather data from individuals diagnosed with various forms of congenital muscular dystrophy and related conditions. Participants will provide medical information through surveys and medical records, contributing to a better understanding of these rare diseases and potentially informing future treatment guidelines.

Why it matters

Potential benefit: If successful, this study could lead to improved care standards and quality of life for patients with congenital muscle diseases.

How similar studies have gone: While this approach is observational and builds on existing registries, similar studies have shown success in identifying care parameters in rare diseases.

Who can join: the full rules

Show full inclusion / exclusion criteria 
Inclusion Criteria:

Alpha 7/Alpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43) LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient) LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy) RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy) SYNE1 (Nesprin Related Muscular Dystrophy) Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap) Congenital Muscular Dystrophy Not Otherwise Specified (including Merosin Positive) Titin Related LGMD/CMD, LGMD2J Actin Aggregation Myopathy Cap Disease Central Core Disease (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Core Rod Myopathy Hyaline Body Myopathy Multiminicore Myopathy Myotubular Myopathy Nemaline Myopathy Reducing Body Myopathy RYR1 Related Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Spheroid Body Myopathy Titin Related Myopathy, Titin Related Dialated Cardiomyopathy, LGMD2J Tubular Aggregate Myopathy Zebra Body Disease Myopathy Congenital Myopathy Not Otherwise Specified Congenital Myasthenic Syndrome Escobar Syndrome Myofibrillar Myopathy

Exclusion Criteria:

Charcot Marie Tooth Duchenne/Becker Muscular Dystrophy Facioscapulohumeral Dystrophy/FSHD Kennedy's Disease LGMD-1A (TTID) LGMD-1C (CAV3, Caveloin 3, Caveolinopathy, LQT9, VIP21) LGMD-1D (7q) LGMD-1E (6q23) LGMD-1F (7q32.1-q32.2) LGMD-1G (4q21) LGMD-2A (CAPN3/Calpainopathy) LGMD-2B (DYSF/Dysferlinopathy/Miyoshi Myopathy) LGMD-2C (SGCG) LGMD-2D (SGCA) LGMD-2E (SGCB) LGMD-2F (SGCD) LGMD-2L (AN05/Anoctamin 5) Lipodystrophy Myotonic Dystrophy Oculopharyngeal Muscular Dystrophy Spinal Muscular Atrophy

Where it's running

  • Congenital Muscle Disease International Registry (www.cmdir.org)
    Lakewood, California, United States     Recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
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Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.