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Mapping Novel Disease Genes for Dilated Cardiomyopathy

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. Read our disclaimer for details. Identifier: NCT00046618
Recruitment Status : Completed
First Posted : October 1, 2002
Last Update Posted : February 20, 2014
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
Mayo Clinic

Brief Summary:
To identify new dilated cardiomyopathy genes by genetic linkage and mutational analyses.

Condition or disease
Cardiomyopathy, Congestive Cardiovascular Diseases Heart Diseases Heart Failure, Congestive

Detailed Description:


Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder causing congestive heart failure. Current medical therapy has minimal impact on prognosis and cardiac transplantation is the only definitive treatment for end-stage disease. The molecular and cellular mechanisms underlying DCM are poorly defined, but the importance of single gene defects in disease pathogenesis is becoming increasingly apparent.


The genetic epidemiology study will identify novel dilated cardiomyopathy genes using genetic linkage and mutational analyses. The first aim is to determine the chromosomal location of novel familial dilated cardiomyopathy genes. This will be accomplished by genome-wide genotyping and genetic linkage analyses in three large families with autosomal dominant dilated cardiomyopathy. Previously identified dilated cardiomyopathy genes have been excluded in these families. The second aim is to identify mutations in novel genes that cause familial dilated cardiomyopathy by linkage and sequence analyses of candidate genes mapping to dilated cardiomyopathy loci. Once novel genes for familial dilated cardiomyopathy are identified, the third aim will be to determine the role of these genes in a large cohort of unrelated patients with familial and sporadic dilated cardiomyopathy. High throughput DNA sequence analyses will be performed to identify additional inherited and de novo mutations.

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Study Type : Observational
Study Start Date : July 2002
Actual Primary Completion Date : June 2006
Actual Study Completion Date : June 2006

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
No eligibility criteria

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): NCT00046618

Sponsors and Collaborators
Mayo Clinic
National Heart, Lung, and Blood Institute (NHLBI)
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OverallOfficial: Timothy Olson Mayo Clinic
Layout table for additonal information Identifier: NCT00046618    
Other Study ID Numbers: 1187
R01HL071225 ( U.S. NIH Grant/Contract )
First Posted: October 1, 2002    Key Record Dates
Last Update Posted: February 20, 2014
Last Verified: February 2014
Additional relevant MeSH terms:
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Heart Failure
Cardiovascular Diseases
Heart Diseases
Cardiomyopathy, Dilated