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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
Mayo Clinic
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Cardiomyopathy, Congestive

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

No eligibility criteria

Sites / Locations

    Outcomes

    Primary Outcome Measures

    Secondary Outcome Measures

    Full Information

    First Posted
    September 30, 2002
    Last Updated
    February 19, 2014
    Sponsor
    Mayo Clinic
    Collaborators
    National Heart, Lung, and Blood Institute (NHLBI)
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    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
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    Mapping Novel Disease Genes for Dilated Cardiomyopathy

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