The Genetic Basis of Congenital Heart Disease in Africa

Sponsor
National Human Genome Research Institute (NHGRI) (NIH)
Overall Status
Completed
CT.gov ID
NCT01952171
Collaborator
University of Lagos, Nigeria (Other), Uganda Heart Institute, Kampala, Uganda (Other)
770
3
93.1
256.7
2.8

Study Details

Study Description

Brief Summary

Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the world. In this application, we propose to utilize the unique advantages of Sub-Saharan Africa - a combination of the most genetically diverse populations in the world and of diminished environmental background effects (i.e. low prevalence of smoking, alcohol abuse, obesity in comparison to western countries) - to better understand the genetic basis for congenital heart disease. We will couple next generation genomic techniques with more traditional gene discovery methods to investigate CHD in two African countries: Uganda and Nigeria. The inclusion of syndromic and non-syndromic CHD observed in these populations as well as careful phenotyping (including echocardiography) will greatly enhance our potential to provide insight into the genetic architecture of CHD in African populations. To accomplish this, we plan to enroll families, in whom members have congenital heart malformations consistent with an error of early human development in our research protocol. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the Department of Pediatrics, College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. High throughput genomic studies will be done at the NIH.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the world. In this application, we propose to utilize the unique advantages of Sub-Saharan Africa - a combination of the most genetically diverse populations in the world and of diminished environmental background effects (i.e. low prevalence of smoking, alcohol abuse, obesity in comparison to western countries) - to better understand the genetic basis for congenital heart disease. We will couple next generation genomic techniques with more traditional gene discovery methods to investigate CHD in two African countries: Uganda and Nigeria. The inclusion of syndromic and non-syndromic CHD observed in these populations as well as careful phenotyping (including echocardiography) will greatly enhance our potential to provide insight into the genetic architecture of CHD in African populations. To accomplish this, we plan to enroll families, in whom members have congenital heart malformations consistent with an error of early human development in our research protocol. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the Department of Pediatrics, College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. High throughput genomic studies will be done at the NIH.

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    770 participants
    Observational Model:
    Cohort
    Time Perspective:
    Cross-Sectional
    Official Title:
    The International Genetic Basis of Congenital Heart Disease Study
    Actual Study Start Date :
    Sep 17, 2013
    Actual Primary Completion Date :
    Jun 22, 2021
    Actual Study Completion Date :
    Jun 22, 2021

    Arms and Interventions

    Arm Intervention/Treatment
    Congenital Heart Disease

    Congenital Heart Disease

    Outcome Measures

    Primary Outcome Measures

    1. Genetic Diagnosis [One patient visit only]

      The primary outcome is a genetic diagnosis for congenital heart disease. There are no treatments.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    1 Month and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    • INCLUSION CRITERIA:

    The study will include affected individuals and their affected/or unaffected family members. Family members will include parents and siblings. The goal will to be obtaining a minimum of a trio (affected and both parents) to increase probability of finding gene mutations. Clinical criteria for inclusion is defined as presence of a congenital cardiac malformation related to errors in early human development. The diagnosis of congenital heart disease (presence of a congenital cardiac malformation thought to be related to errors in early human development) will be made by a cardiologist on our team based on echocardiogram (performed by C.S., A.B. or E.E.), physical examination, medical history, and review of medical record.

    EXCLUSION CRITERIA:

    Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Childrens National Medical Center Washington District of Columbia United States 20010
    2 College of Medicine, University of Lagos Lagos Nigeria
    3 Chiang Mai University Chiangmai Thailand

    Sponsors and Collaborators

    • National Human Genome Research Institute (NHGRI)
    • University of Lagos, Nigeria
    • Uganda Heart Institute, Kampala, Uganda

    Investigators

    • Principal Investigator: Adebowale A Adeyemo, M.D., National Human Genome Research Institute (NHGRI)

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    National Human Genome Research Institute (NHGRI)
    ClinicalTrials.gov Identifier:
    NCT01952171
    Other Study ID Numbers:
    • 999913207
    • 13-HG-N207
    First Posted:
    Sep 27, 2013
    Last Update Posted:
    Apr 8, 2022
    Last Verified:
    Jun 21, 2021
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by National Human Genome Research Institute (NHGRI)
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Apr 8, 2022