Molecular and Genetic Studies of Congenital Myopathies

Description

In the Congenital Myopathy Research Program at Children's Hospital Boston 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, SEPN1 and RYR1 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

Study Start Date

August 2003

Estimated Completion Date

January 2050

Interventions

No interventions cited

Specialties

  • Internal Medicine: Basic Science/Genetics,Neurology
  • Neurology: Basic Science/Genetics,Neuropathy/Myopathy
  • Family Medicine: Basic Science/Genetics

MeSH Terms

  • Muscular Diseases
  • Musculoskeletal Diseases
  • Myopathies, Structural, Congenital

Study ID

Children's Hospital Boston -- 03-08-128R

Status

Recruiting

Trial ID

NCT00272883

Study Type

Observational

Trial Phase

N/A

Enrollment Quota

4000

Sponsor

Children's Hospital Boston

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.

Gender

Both

Ages

N/A

Accepts Healthy Volunteers

No

Study Locations and Contact Information (1)

Study Location Distance Name Phone Email
Genetics Division Boston Childrens Hospital - Boston, Massachusetts 2.6 miles Casie Genetti MS CGC 617-919-2169 cgenetti@enders.tch.harvard.edu

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