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Molecular and Genetic Studies of Congenital Myopathies

NCT00272883 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 4000

Last updated 2026-03-25

No results posted yet for this study

Summary

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

  • Central Core Disease
  • Centronuclear Myopathy
  • Congenital Fiber Type Disproportion
  • Multiminicore Disease
  • Myotubular Myopathy
  • Nemaline Myopathy
  • Rigid Spine Muscular Dystrophy
  • Undefined Congenital Myopathy

Sponsors & Collaborators

Principal Investigators

  • Alan H. Beggs, Ph.D. · Children's Hospital Boston/Harvard Medical School

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2003-08-31
Primary Completion
2050-01-31
Completion
2050-01-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00272883 on ClinicalTrials.gov