Mapping Novel Disease Genes for Dilated Cardiomyopathy

NCT ID: NCT00046618

Last Updated: 2014-02-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Study Classification

OBSERVATIONAL

Study Start Date

2002-07-31

Study Completion Date

2006-06-30

Brief Summary

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

Detailed Description

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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.

Conditions

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Cardiomyopathy, Congestive Cardiovascular Diseases Heart Diseases Heart Failure, Congestive

Eligibility Criteria

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Inclusion Criteria

No eligibility criteria
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role collaborator

Mayo Clinic

OTHER

Sponsor Role lead

Principal Investigators

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Timothy Olson

Role:

Mayo Clinic

References

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Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ, Anderson JL. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005 Jan 26;293(4):447-54. doi: 10.1001/jama.293.4.447.

Reference Type BACKGROUND
PMID: 15671429 (View on PubMed)

Other Identifiers

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R01HL071225

Identifier Type: NIH

Identifier Source: secondary_id

View Link

1187

Identifier Type: -

Identifier Source: org_study_id

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