The Genetic Basis of Congenital Heart Disease in Africa
Completed
Conditions studied: Congenital Heart Disease, Heart Disease
In brief
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....
Key facts
- Study ID
- NCT01952171
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 1233
- Starts
- 2013-09-17
- Last updated by the study team
- 2026-08-07
Who can join
Age: 0 and older, up to 115. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
Where it is running
- Childrens National Medical Center — Washington D.C., District of Columbia, United States
Full record on ClinicalTrials.gov
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