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Genetics of Cardiovascular and Neuromuscular Disease

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: NCT00138931
Recruitment Status : Recruiting
First Posted : August 30, 2005
Last Update Posted : August 24, 2016
Information provided by (Responsible Party):
University of Chicago

Brief Summary:
We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy. An equal number of genetic regions have been associated with muscular dystrophy and there is overlap because some of the identical genes, when mutated, produce both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to screen these samples for mutations in genes known to be involved in these disorders.

Condition or disease Intervention/treatment
Cardiomyopathy Arrhythmia Muscular Dystrophy Procedure: Blood draw (genetic testing)

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Family-Based
Official Title: Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
Study Start Date : September 1996
Estimated Primary Completion Date : January 2025

Intervention Details:
  • Procedure: Blood draw (genetic testing)
    Blood draw (genetic testing)

Primary Outcome Measures :
  1. Identification of genetic causes of cardiomyopathy [ Time Frame: unlimited ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients of all ages with familial idiopathic cardiomyopathy, including dilated, hypertrophic, and left ventricular non-compaction cardiomyopathy

Inclusion Criteria:

  • Patients of all ages will be considered for the study. In particular, families with more than one affected relative will be sought.

Exclusion Criteria:

  • Subjects without a suspected inherited cardiovascular or neuromuscular disorder will be excluded from this study.

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 identifier (NCT number): NCT00138931

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Contact: Lisa Dellefave, MS 773-702-4310
Contact: Elizabeth McNally, MD PhD 773-702-2679

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United States, Illinois
University of Chicago Recruiting
Chicago, Illinois, United States, 60637
Contact: Lisa Dellefave, MS    773-702-4310   
Sponsors and Collaborators
University of Chicago
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Principal Investigator: Elizabeth McNally, MD PhD University of Chicago

Additional Information:
Publications of Results:
Other Publications:

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: University of Chicago Identifier: NCT00138931     History of Changes
Other Study ID Numbers: 8249
First Posted: August 30, 2005    Key Record Dates
Last Update Posted: August 24, 2016
Last Verified: August 2016

Keywords provided by University of Chicago:
Muscular Dystrophy

Additional relevant MeSH terms:
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Muscular Dystrophies
Neuromuscular Diseases
Heart Diseases
Cardiovascular Diseases
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn