Mapping Novel Disease Genes for Dilated Cardiomyopathy

Completed

• Conditions: Heart Failure, Congestive; Cardiomyopathy, Congestive; Cardiovascular Diseases; Heart Diseases

• Registration Number: NCT00046618
• Lead Sponsor: Mayo Clinic

Brief Summary

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

Detailed Description

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.

Study Timeline

• Study Start: 2002-07
• Study First Submitted: 2002-09-30
• Study First Submitted QC: 2002-09-30
• Study First Posted: 2002-10-01
• Primary Completion: 2006-06
• Study Completion: 2006-06
• Status Verified: 2014-02
• Last Update Submitted: 2014-02-19
• Last Update Posted: 2014-02-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified