Research on genetic causes of congenital myopathies
Molecular Analysis of Neuromuscular Disease
Boston Children's Hospital · NCT00272883
This study is trying to find out more about the genetic causes of congenital myopathies to help improve diagnosis and treatment for people born with these muscle diseases.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 4000 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital (other) |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT00272883 on ClinicalTrials.gov |
What this trial studies
The Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School focuses on understanding congenital myopathies, which are neuromuscular diseases present from birth. Researchers are identifying new genes and proteins involved in muscle function and studying genetic mutations that lead to these conditions. The program encourages participation from individuals with congenital myopathies and their families, who contribute medical records and biological samples for analysis. This research aims to improve diagnosis and treatment options for affected individuals in the future.
Who should consider this trial
Good fit: Ideal candidates include individuals with a clinical or suspected diagnosis of congenital myopathy and their first-degree relatives.
Not a fit: Patients with myotonia congenita or related conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and treatment strategies for patients with congenital myopathies.
How similar studies have performed: Other studies have shown success in identifying genetic causes of neuromuscular diseases, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members Exclusion Criteria: * No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.
Where this trial is running
Boston, Massachusetts
- Genetics Division, Boston Children's Hospital — Boston, Massachusetts, United States (RECRUITING)
Study contacts
- Principal investigator: Alan H. Beggs, Ph.D. — Children's Hospital Boston/Harvard Medical School
- Study coordinator: Casie Genetti, M.S. C.G.C.
- Email: BeggsLabGC@childrens.harvard.edu
- Phone: (617) 919-2169
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.
Conditions: Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline Myopathy, Rigid Spine Muscular Dystrophy, Undefined Congenital Myopathy