NCT02124109

The Genetic Basis of Acquired Heart Disease in Africa

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 736 (actual)
• Sponsor: National Human Genome Research Institute (NHGRI) · NIH
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

Background: \- An acquired heart disease is one that a person gets after they are born. Two of these are rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF). They are found more commonly in people who live in Africa than in other places in the world. Researchers want to learn more about these diseases. They especially want to know what role genes and other factors play in them. Objective: \- To identify genetic risk factors for RHD and EMF in sub-Saharan Africa. Eligibility: * Children and adults with RHD or EMF. * Healthy volunteers over age 10. Design: * Participants will come from existing study groups in Uganda and Nigeria. * Participants may be required to provide a sample of their DNA. They will do this with either a blood or saliva sample or a swab of the mouth. * Collected samples will be labeled with a code and sent to a lab in the United States for analysis. Remaining portions of participants samples will be stored for an unlimited period of time. They may be used in future studies. * Some genetic and health information from participants might be placed into one or more scientific databases. * Participant names and identifying information will be kept private. But there is a small chance someone could trace them from their genetic information.

Detailed description

Recent advances in genomic techniques are making possible a new wave of genetic discovery in many complex diseases. However, the genetic risk factors for two forms of acquired heart disease that are particularly common in Africa - rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF) remains unknown. In this application, we propose to evaluate genetic risk factors for rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF). A number of factors should facilitate the identification of genetic risk variants underlying the two conditions. First, both forms of acquired heart disease are endemic to sub-Saharan Africa (SSA). Second, affected patients and those who do not develop the conditions share a common environment. Finally, the availability of high density SNP arrays to capture common and rare variation makes the characterization of genomic variation better than ever. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. Genomic studies will be done at the NIH.

Conditions

• Rheumatic Heart Disease
• Rheumatic Fever
• Endomyocardial Fibrosis
• Acquired Heart Disease

Timeline

• Start date: 2014-04-03
• Primary completion: 2019-03-08
• Completion: 2020-02-06
• First posted: 2014-04-28
• Last updated: 2020-02-13

Locations

2 sites across 2 countries: Nigeria, Uganda