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NCT01952171
The Genetic Basis of Congenital Heart Disease in Africa
trial in Congenital Heart Disease in 1,233 participants. Completed.
22 June 2021
Quick facts
| Lead sponsor | National Human Genome Research Institute (NHGRI) |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 1,233 |
| Start date | 17 September 2013 |
| Primary completion | 22 June 2021 |
| Sites | 3 locations across Thailand, United States, Nigeria |
Conditions studied
- Congenital Heart Disease — all drugs for Congenital Heart Disease →
- Heart Disease — all drugs for Heart Disease →
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):
-
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
Verify or expand the search:
- PubMed search for NCT01952171
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT01952171 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI)
- Last refreshed: 16 April 2026
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT01952171.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing