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The Genetic Basis of Congenital Heart Disease in Africa

NCT01952171 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1233

Last updated 2026-05-22

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • University of Lagos, Nigeria

    collaborator OTHER

  • Uganda Heart Institute

    collaborator OTHER

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

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

Eligibility

Min Age
1 Month
Max Age
115 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-09-17
Primary Completion
2021-06-22

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01952171 on ClinicalTrials.gov