Molecular and Genetic Studies of Congenital Myopathies

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00272883
Recruitment Status : Recruiting
First Posted : January 9, 2006
Last Update Posted : March 22, 2018
Muscular Dystrophy Association
Information provided by (Responsible Party):
Alan H. Beggs, Boston Children’s Hospital

January 5, 2006
January 9, 2006
March 22, 2018
August 2003
January 2050   (Final data collection date for 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. ]
This is an ongoing genetic discovery study aimed at finding and confirming pathogenic mutations in known and new disease genes.
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Complete list of historical versions of study NCT00272883 on Archive Site
Characterization of Clinical Features of Congenital Myopathies [ Time Frame: The time frame for disease classifacation and genotype-phenotype correlation is unpredictable and may range from several days to several decades. ]
As known as known and new disease genes are identified the resulting genotypes are correlated with subject phenotypes.
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Molecular and Genetic Studies of Congenital Myopathies
Molecular Analysis of Neuromuscular Disease
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, 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

The Congenital Myopathy Research Program consists of a group of scientists and healthcare providers all working to better understand the congenital myopathies. We are taking two approaches to reach our research goals. The first involves identifying and describing new genes and proteins involved in the skeletal muscles that allow our bodies to move. Simultaneously, studies are underway to identify genetic changes (mutations) that cause human neuromuscular disease. Thus, our second approach is to identify mutations, learn how they are inherited in families, and understand how they lead to weakness in individuals with neuromuscular disease. These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals.

Our research would not be possible without the generous participation of individuals and families with congenital myopathies. Participation in our studies is free of charge. Travel to Boston is not required, and we welcome the participation of individuals from around the world.

We appreciate the participation of all individuals with a congenital myopathy, as well as their first-degree relatives. Participants with a congenital myopathy are asked to donate medical records, a blood or saliva sample, and a muscle tissue sample (if available). Participating relatives are asked to donate a blood sample. The blood/saliva sample is used to acquire DNA (genetic material) which can be used to identify genetic changes and to study how a disease is inherited in a family. The medical records are employed to understand a participant's symptoms. The muscle tissue is used to better understand the disease at the muscular level by studying the gene expression and protein levels in individuals with congenital myopathies.

For more information, visit the Laboratory Website at

Observational Model: Case-Only
Time Perspective: Other
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Retention:   Samples With DNA
The primary biospecimens retained are blood, saliva and muscle tissue samples. Other specimens are retained on a case-by-case basis.
Non-Probability Sample
Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members.
  • Central Core Disease
  • Centronuclear Myopathy
  • Congenital Fiber Type Disproportion
  • Multiminicore Disease
  • Myotubular Myopathy
  • Nemaline Myopathy
  • Rigid Spine Muscular Dystrophy
  • Undefined Congenital Myopathy
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
January 2050
January 2050   (Final data collection date for primary outcome measure)

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.
Sexes Eligible for Study: All
Child, Adult, Older Adult
Contact: Casie Genetti, M.S. C.G.C. (617) 919-2169
Contact: Beggs lab
United States
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Alan H. Beggs, Boston Children’s Hospital
Boston Children’s Hospital
Muscular Dystrophy Association
Principal Investigator: Alan H. Beggs, Ph.D. Children's Hospital Boston/Harvard Medical School
Boston Children’s Hospital
March 2018