Actively Recruiting
Molecular and Genetic Studies of Congenital Myopathies
Led by Boston Children's Hospital · Updated on 2026-03-25
4000
Participants Needed
1
Research Sites
2422 weeks
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
M
Muscular Dystrophy Association
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
Molecular and Genetic Studies of Congenital Myopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals with a clinical or suspected diagnosis of a congenital myopathy
- Family members of individuals with a congenital myopathy
You will not qualify if you...
- Diagnosis of myotonia congenita or related conditions
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Genetics Division, Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
C
Casie Genetti, M.S. C.G.C.
CONTACT
B
Beggs lab
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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