This site became the new on June 19th. Learn more.
Show more Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu
Give us feedback
Trial record 1 of 2 for:    "Congenital fiber type disproportion"
Previous Study | Return to List | Next Study

Molecular and Genetic Studies of Congenital Myopathies

This study is currently recruiting participants.
See Contacts and Locations
Verified December 2016 by Alan H. Beggs, Boston Children's Hospital
Muscular Dystrophy Association
Information provided by (Responsible Party):
Alan H. Beggs, Boston Children's Hospital Identifier:
First received: January 5, 2006
Last updated: December 8, 2016
Last verified: December 2016
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 Alan H. Beggs, Boston Children's Hospital:

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. ]
    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. ]
    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


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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: Casie Genetti, M.S. C.G.C. (617) 919-2169
Contact: Beggs lab

United States, Massachusetts
Genetics Division, Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Casie Genetti, M.S. C.G.C.    617-919-2169   
Principal Investigator: Alan H. Beggs, Ph.D.         
Sponsors and Collaborators
Boston Children’s Hospital
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, Boston Children's Hospital Identifier: NCT00272883     History of Changes
Other Study ID Numbers: 03-08-128R
Study First Received: January 5, 2006
Last Updated: December 8, 2016

Keywords provided by Alan H. Beggs, Boston Children's Hospital:
congenital fiber type disproportion
central core
congenital myopathy
rigid spine

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Diseases
Myopathies, Structural, Congenital
Myopathies, Nemaline
Myopathy, Central Core
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn processed this record on September 25, 2017