Home › NCT00272883

Molecular and Genetic Studies of Congenital Myopathies

Molecular Analysis of Neuromuscular Disease

Who can join

All ages · All sexes

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.

About the study

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

Sponsor: Boston Children's Hospital · Participants: 4,000 · Started: 2003-08

Contact the study team

• Casie Genetti, M.S. C.G.C. · Phone: (617) 919-2169

Official record on ClinicalTrials.gov — NCT00272883

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 1, 2026. Each study sets its own eligibility; the study team decides who can join.