Molecular and Genetic Studies of Congenital Myopathies
Recruiting now
Conditions studied: Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline Myopathy, Rigid Spine Muscular Dystrophy, Undefined Congenital Myopathy
In brief
In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs
Key facts
- Study ID
- NCT00272883
- Run by
- Boston Children's Hospital
- People needed
- 4000
- Starts
- 2003-08-01
- Expected to finish
- 2050-01-01
- Last updated by the study team
- 2026-03-25
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members
You may not qualify if…
- No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.
Where it is running
- Genetics Division, Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)
Full record on ClinicalTrials.gov
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