Mapping Novel Disease Genes for Dilated Cardiomyopathy
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|ClinicalTrials.gov Identifier: NCT00046618|
Recruitment Status : Completed
First Posted : October 1, 2002
Last Update Posted : February 20, 2014
|Condition or disease|
|Cardiomyopathy, Congestive Cardiovascular Diseases Heart Diseases Heart Failure, Congestive|
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.
|Study Type :||Observational|
|Study Start Date :||July 2002|
|Actual Primary Completion Date :||June 2006|
|Actual Study Completion Date :||June 2006|
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): NCT00046618
|OverallOfficial:||Timothy Olson||Mayo Clinic|