The Genetic Basis of Congenital Heart Disease in Africa

Congenital Heart Disease Clinical Trial

Official title:

The International Genetic Basis of Congenital Heart Disease Study

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01952171
• Other study ID #: 999913207
• Secondary ID: 13-HG-N207
• Status: Completed
• Start date: September 17, 2013

Study information

• Verified date: January 9, 2024
• Source: National Institutes of Health Clinical Center (CC)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 1231
• Est. primary completion date: June 22, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Month and older

Eligibility

• INCLUSION CRITERIA:

The study will include affected individuals and their affected/or unaffected family members. Family members will include parents and siblings. The goal will to be obtaining a minimum of a trio (affected and both parents) to increase probability of finding gene mutations. Clinical criteria for inclusion is defined as presence of a congenital cardiac malformation related to errors in early human development. The diagnosis of congenital heart disease (presence of a congenital cardiac malformation thought to be related to errors in early human development) will be made by a cardiologist on our team based on echocardiogram (performed by C.S., A.B. or E.E.), physical examination, medical history, and review of medical record. EXCLUSION CRITERIA: Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.

Related Conditions & MeSH terms

• Congenital Heart Disease
• Heart Defects, Congenital
• Heart Disease
• Heart Diseases

Locations

Country	Name	City	State
Nigeria	College of Medicine, University of Lagos	Lagos
Thailand	Chiang Mai University	Chiangmai
United States	Childrens National Medical Center	Washington	District of Columbia

Sponsors (3)

Lead Sponsor	Collaborator
National Human Genome Research Institute (NHGRI)	Uganda Heart Institute, University of Lagos, Nigeria

Countries where clinical trial is conducted

United States,  Nigeria,  Thailand, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic Diagnosis	The primary outcome is a genetic diagnosis for congenital heart disease. There are no treatments.	One patient visit only