Clinical Trial: Mapping Novel Disease Genes for Dilated Cardiomyopathy
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title:
Brief Summary: To identify new dilated cardiomyopathy genes by genetic linkage and mutational analyses.
Detailed Summary:
BACKGROUND:
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.
DESIGN NARRATIVE:
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.
Sponsor: Mayo Clinic
Current Primary Outcome:
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Mayo Clinic
Dates:
Date Received: September 30, 2002
Date Started: July 2002
Date Completion:
Last Updated: February 19, 2014
Last Verified: February 2014
