Clinical Research Directory
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2 clinical studies listed.
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Tundra lists 2 Myotubular Myopathy clinical trials. Each listing includes eligibility criteria, study locations, and direct links to research sites in the Tundra directory.
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NCT00272883
Molecular and Genetic Studies of Congenital Myopathies
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
Gender: All
Updated: 2026-03-25
1 state
NCT04064307
Myotubular and Centronuclear Myopathy Patient Registry
The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org.
Gender: All
Updated: 2025-04-09
1 state