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NCT01952171

The Genetic Basis of Congenital Heart Disease in Africa

Completed Last updated 16 April 2026
What this trial tests

trial in Congenital Heart Disease in 1,233 participants. Completed.

Timeline
17 September 2013
Primary endpoint
22 June 2021

Quick facts

Lead sponsorNational Human Genome Research Institute (NHGRI)
StatusCompleted
Study typeOBSERVATIONAL
Enrollment1,233
Start date17 September 2013
Primary completion22 June 2021
Sites3 locations across Thailand, United States, Nigeria

Conditions studied

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

Adults 1 Month to 115, any sex, with Congenital Heart Disease or Heart Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own 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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
    Ekure EN, Adeyemo A, Liu H, Sokunbi O, et al · · 2021 · cited 22× · PMID 33448881 · DOI 10.1161/circgen.120.003108

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Other recruiting trials for Congenital Heart Disease

Currently open trials in the same condition.

Other National Human Genome Research Institute (NHGRI) trials

Trials by the same sponsor.

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Data sources for this page

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Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing