Molecular and Genetic Studies of Congenital Myopathies

Molecular and Genetic Studies of Congenital Myopathies
Recruitment Status: 
Status Last Updated: 
July 23, 2019
Study Purpose: 

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) 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

Study 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

Study Type: 
Official Title: 
Molecular Analysis of Neuromuscular Disease
Study Start Date: 
August 2003
Study Completion Date: 
January 2050
Primary Objective(s): 
  1. 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.

Secondary Objective(s): 
  1. 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.


Ages Eligible for Study:  Child, Adult, Older Adult

Sexes Eligible for Study:  All

Accepts Healthy Volunteers:  No

Sampling Method:  Non-Probability Sample

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.

Study Site(s)/Location(s): 

United States, Massachusetts

The Beggs Laboratory

Genetics Division

Boston Children's Hospital

Boston, Massachusetts 02115

Sponsors & Collaborators: 

Boston Children’s Hospital

Muscular Dystrophy Association

Principal Investigator(s): 

Alan H. Beggs, Ph.D.

Children's Hospital Boston/Harvard Medical School

For more information, please contact the Study Coordinator: 

Contact: Casie Genetti, M.S. C.G.C


Phone Number: (617) 919-2169

Contact: Beggs Lab

Email: ID: