The Genetic Basis of Congenital Heart Disease in Africa (NCT01952171) | Clinical Trial Compass
CompletedNot Applicable
The Genetic Basis of Congenital Heart Disease in Africa
United States1,233 participantsStarted 2013-09-17
Plain-language 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.
Who can participate
Age range
1 Month – 115 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This trial focused on finding genetic causes of congenital heart disease specifically in African populations — could my child's or my own heart condition potentially have a genetic basis that standard testing might have missed, and is there a way to explore that now?
2Since this study is completed, would my doctor be able to access any published findings from it that might be relevant to understanding the genetic factors behind my specific type of congenital heart disease?
3This trial was about genetic diagnosis rather than testing a new treatment — does getting a genetic diagnosis actually change the treatment plan, or is it more about understanding family risk and future pregnancies?
4Given that this research was conducted in Africa and looked at genetic patterns in that population, would my ethnic background or family ancestry be relevant when my doctor considers whether these findings apply to me?
5If a genetic cause were identified in my case, what would that mean practically — would other family members need to be tested, and how might it affect decisions about having children?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Genetic Diagnosis
Timeframe: One patient visit only
Trial details
NCT IDNCT01952171
SponsorNational Human Genome Research Institute (NHGRI)