Molecular and Genetic Studies of Congenital Myopathies

Conditions

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

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

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 Dates

Start date

Aug 31, 2003

Status verified

Mar 2026

Primary completion

Jan 31, 2050

Completion

Jan 31, 2050

Study Design

Enrollment

4,000 participants (estimated)

Primary Outcome Measure

Identification of Neuromuscular Disease Genes [ Time Frame: The time frame for disease gene discovery is unpredictable and may range from several days to several decades. ]

Central Contacts

• Casie Genetti, M.S. C.G.C.
  (617) 919-2169
  [email protected]
• Beggs lab
  [email protected]

Locations (1)

Find similar trials in Boston, MA

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