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Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease

Primary Purpose

Cardiovascular Diseases, Heart Diseases, Defect, Congenital Heart

Status
Completed
Phase
Locations
Study Type
Observational
Intervention
Sponsored by
National Heart, Lung, and Blood Institute (NHLBI)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Cardiovascular Diseases

Eligibility Criteria

undefined - 100 Years (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
    May 25, 2000
    Last Updated
    May 12, 2016
    Sponsor
    National Heart, Lung, and Blood Institute (NHLBI)
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    1. Study Identification

    Unique Protocol Identification Number
    NCT00005546
    Brief Title
    Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease
    Study Type
    Observational

    2. Study Status

    Record Verification Date
    December 2004
    Overall Recruitment Status
    Completed
    Study Start Date
    January 1999 (undefined)
    Primary Completion Date
    undefined (undefined)
    Study Completion Date
    December 2004 (Actual)

    3. Sponsor/Collaborators

    Name of the Sponsor
    National Heart, Lung, and Blood Institute (NHLBI)

    4. Oversight

    5. Study Description

    Brief Summary
    To identify genes involved in the pathogenesis of three types of congenital heart disease, atrial septal defects, paramembranous ventricular septal defects, and atrioventricular canal defects.
    Detailed Description
    BACKGROUND: Congenital heart defects (CHDs) are thought to result from genetic and environmental factors that disturb cardiac embryogenesis. Because families with multiple members affected with atrial septal defects (ASDs) and atrioventricular canal defects (AVCDs) have been described in previous studies, and the paramembranous ventricular septum is in part completed by the formation of the atrioventricular cushions, this project describes a genetic-epidemiologic study of ASDs, paramembranous ventricular septal defects (VSDs), and AVCDs DESIGN NARRATIVE: The study is one of several subprojects within a Specialized Center of Research (SCOR) in Pediatric Cardiovascular Disease. Three groups of subjects, each with surgically- or echocardiographically-confirmed diagnoses of ASDs, VSDs or AVCDs have been identified for study at the University of Iowa Hospitals and Clinics, and at Wolfson Children's Hospital in Jacksonville, Florida. A fourth group of older subjects with ASDs and their progeny will be studied at Iowa because of the reported high recurrence of heart disease in the offspring of subjects with ASDs. The strategy calls upon the molecular genetic capacities available at the University of Iowa to carry out genome-wide searches for genetic loci involved in these defects. Several candidate regions have been identified for ASDs, VSDs and AVCDs. In addition, three well-recognized syndromes provide additional candidate regions - Down syndrome, Holt-Oram syndrome and 8p-syndrome. Parent-affected child trios will be genotyped for closely-spaced markers within these regions and linkage disequilibrium analysis will be used to narrow or exclude these candidate intervals. A genome-wide association study of the trios will employ a parsimonious technique in which DNA from cases with the same CHD phenotype will be pooled, and compared to the pooled DNA from their parents. Loci will be identified where the allele frequency distributions in the affected children and their parents are significantly different. When such loci are identified, a finer localization of the chromosomal area will be undertaken using a high-density set of short tandem repeat polymorphic markers that spans each of the candidate intervals. The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Cardiovascular Diseases, Heart Diseases, Defect, Congenital Heart, Heart Septal Defects, Ventricular, Heart Septal Defects, Atrial, Endocardial Cushion Defects

    7. Study Design

    10. Eligibility

    Sex
    All
    Maximum Age & Unit of Time
    100 Years
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    No eligibility criteria
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Ronald Lauer
    Organizational Affiliation
    University of Iowa

    12. IPD Sharing Statement

    Learn more about this trial

    Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease

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