Molecular and Genetic Studies of Congenital Myopathies

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2015 by Children's Hospital Boston
Muscular Dystrophy Association
Information provided by (Responsible Party):
Alan H. Beggs, Children's Hospital Boston Identifier:
First received: January 5, 2006
Last updated: July 27, 2015
Last verified: July 2015

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

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

Study Type: Observational
Study Design: Observational Model: Case-Only
Official Title: Molecular Analysis of Neuromuscular Disease

Resource links provided by NLM:

Further study details as provided by Children's Hospital Boston:

Primary Outcome Measures:
  • 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. ] [ Designated as safety issue: No ]
    This is an ongoing genetic discovery study aimed at finding and confirming pathogenic mutations in known and new disease genes.

Secondary Outcome Measures:
  • 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. ] [ Designated as safety issue: No ]
    As known as known and new disease genes are identified the resulting genotypes are correlated with subject phenotypes.

Biospecimen 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.

Estimated Enrollment: 4000
Study Start Date: August 2003
Estimated Study Completion Date: January 2050
Estimated Primary Completion Date: January 2050 (Final data collection date for primary outcome measure)
Detailed Description:

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


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members.


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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00272883

Contact: Lindsay Swanson, M.S. C.G.C. (617) 919-2169

United States, Massachusetts
Genetics Division, Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Lindsay Swanson, M.S. C.G.C.    617-919-2169   
Principal Investigator: Alan H. Beggs, Ph.D.         
Sponsors and Collaborators
Children's Hospital Boston
Muscular Dystrophy Association
Principal Investigator: Alan H. Beggs, Ph.D. Children's Hospital Boston/Harvard Medical School
  More Information

Additional Information:

Responsible Party: Alan H. Beggs, Sir Edwin & Lady Manton Professor of Pediatrics, Children's Hospital Boston Identifier: NCT00272883     History of Changes
Other Study ID Numbers: 03-08-128R, AR44345, NS40828
Study First Received: January 5, 2006
Last Updated: July 27, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Children's Hospital Boston:
central core
congenital fiber type disproportion
congenital myopathy
rigid spine

Additional relevant MeSH terms:
Muscular Diseases
Muscular Dystrophies
Myopathies, Nemaline
Myopathies, Structural, Congenital
Myopathy, Central Core
Genetic Diseases, Inborn
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases processed this record on October 08, 2015