Long-term observation of congenital muscle diseases
Congenital Muscle Disease Patient and Proxy Reported Outcome Study
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.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 4000 (estimated) |
| Sex | All |
| Sponsor | Cure CMD Academic / other |
| Locations | 1 site (Lakewood, California) |
| Trial ID | NCT01403402 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with congenital muscular dystrophy, congenital myopathy, or congenital myasthenic syndrome.
Not a fit: Patients with unrelated neuromuscular conditions or those without a clinical diagnosis of congenital muscle diseases may not benefit from this study.
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 performed: While this approach is observational and builds on existing registries, similar studies have shown success in identifying care parameters in rare diseases.
Eligibility criteria
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 this trial is running
Lakewood, California
- Congenital Muscle Disease International Registry (www.cmdir.org) — Lakewood, California, United States (Recruiting)
Study contacts
- Study coordinator: Rachel Alvarez
- Email: counselor@cmdir.org
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.