Mapping Novel Disease Genes for Dilated Cardiomyopathy

Cardiovascular Diseases Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00046618
• Other study ID #: 1187
• Secondary ID: R01HL071225
• Status: Completed
• Phase: N/A
• First received: September 30, 2002
• Last updated: February 19, 2014
• Start date: July 2002
• Est. completion date: June 2006

Study information

• Verified date: February 2014
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 0
• Est. completion date: June 2006
• Est. primary completion date: June 2006
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older
• Eligibility: No eligibility criteria

Study Design

N/A

Related Conditions & MeSH terms

• Cardiomyopathies
• Cardiomyopathy, Congestive
• Cardiomyopathy, Dilated
• Cardiovascular Diseases
• Heart Diseases
• Heart Failure
• Heart Failure, Congestive

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
Mayo Clinic	National Heart, Lung, and Blood Institute (NHLBI)

References & Publications (1)

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. — View Citation