Mapping Novel Disease Genes for Dilated Cardiomyopathy
Primary Purpose
Cardiomyopathy, Congestive, Cardiovascular Diseases, Heart Diseases
Status
Completed
Phase
Locations
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for Cardiomyopathy, Congestive
Eligibility Criteria
No eligibility criteria
Sites / Locations
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00046618
First Posted
September 30, 2002
Last Updated
February 19, 2014
Sponsor
Mayo Clinic
Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
1. Study Identification
Unique Protocol Identification Number
NCT00046618
Brief Title
Mapping Novel Disease Genes for Dilated Cardiomyopathy
Study Type
Observational
2. Study Status
Record Verification Date
February 2014
Overall Recruitment Status
Completed
Study Start Date
July 2002 (undefined)
Primary Completion Date
June 2006 (Actual)
Study Completion Date
June 2006 (Actual)
3. Sponsor/Collaborators
Name of the Sponsor
Mayo Clinic
Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
4. Oversight
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Cardiomyopathy, Congestive, Cardiovascular Diseases, Heart Diseases, Heart Failure, Congestive
7. Study Design
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
No eligibility criteria
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Timothy Olson
Organizational Affiliation
Mayo Clinic
12. IPD Sharing Statement
Citations:
PubMed Identifier
15671429
Citation
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.
Results Reference
background
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Mapping Novel Disease Genes for Dilated Cardiomyopathy
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