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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

Tracking Information
First Submitted Date January 5, 2006
First Posted Date January 9, 2006
Last Update Posted Date March 22, 2018
Study Start Date August 2003
Estimated Primary Completion Date January 2050   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 27, 2015)
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.
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00272883 on Archive Site
Current Secondary Outcome Measures
 (submitted: July 27, 2015)
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.
Original Secondary Outcome Measures Not Provided
Current Other Outcome Measures Not Provided
Original Other Outcome Measures Not Provided
Descriptive Information
Brief Title Molecular and Genetic Studies of Congenital Myopathies
Official Title Molecular Analysis of Neuromuscular Disease
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, 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
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

Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Other
Target Follow-Up Duration Not Provided
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.
Sampling Method Non-Probability Sample
Study Population 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
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 27, 2015)
Original Enrollment
 (submitted: January 5, 2006)
Estimated Study Completion Date January 2050
Estimated Primary Completion Date January 2050   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contact: Casie Genetti, M.S. C.G.C. (617) 919-2169
Contact: Beggs lab
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT00272883
Other Study ID Numbers 03-08-128R
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Alan H. Beggs, Boston Children’s Hospital
Study Sponsor Boston Children’s Hospital
Collaborators Muscular Dystrophy Association
Principal Investigator: Alan H. Beggs, Ph.D. Children's Hospital Boston/Harvard Medical School
PRS Account Boston Children’s Hospital
Verification Date March 2018