We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Try the New Site
We're building a modernized ClinicalTrials.gov! Visit Beta.ClinicalTrials.gov to try the new functionality.
ClinicalTrials.gov Menu

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.
ClinicalTrials.gov Identifier: NCT00272883
Recruitment Status : Recruiting
First Posted : January 9, 2006
Last Update Posted : October 10, 2022
Muscular Dystrophy Association
Information provided by (Responsible Party):
Alan H. Beggs, Boston Children's Hospital

Brief Summary:
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), RYR1 myopathy, ADSS1 (ADSSL!) 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

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

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 www.childrenshospital.org/research/beggs.

Layout table for study information
Study Type : Observational
Estimated Enrollment : 4000 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Molecular Analysis of Neuromuscular Disease
Study Start Date : August 2003
Estimated Primary Completion Date : January 2050
Estimated Study Completion Date : January 2050

Primary Outcome Measures :
  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 Outcome Measures :
  1. Characterization of Clinical Features of Congenital Myopathies [ Time Frame: The time frame for disease classification 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.

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00272883

Layout table for location contacts
Contact: Casie Genetti, M.S. C.G.C. (617) 919-2169 BeggsLabGC@childrens.harvard.edu
Contact: Beggs lab beggslab@enders.tch.harvard.edu

Layout table for location information
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    BeggsLabGC@childrens.harvard.edu   
Principal Investigator: Alan H. Beggs, Ph.D.         
Sponsors and Collaborators
Boston Children's Hospital
Muscular Dystrophy Association
Layout table for investigator information
Principal Investigator: Alan H. Beggs, Ph.D. Children's Hospital Boston/Harvard Medical School
Publications of Results:

Layout table for additonal information
Responsible Party: Alan H. Beggs, Sir Edwin & Lady Manton Professor of Pediatrics, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT00272883    
Other Study ID Numbers: 03-08-128R
First Posted: January 9, 2006    Key Record Dates
Last Update Posted: October 10, 2022
Last Verified: October 2022
Keywords provided by Alan H. Beggs, Boston Children's Hospital:
central core
congenital fiber type disproportion
congenital myopathy
rigid spine
Additional relevant MeSH terms:
Layout table for 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