Scientists hunt for heart disease genes in african families
NCT ID NCT01952171
First seen Jun 27, 2026 · Last updated Sep 17, 2026 · Updated 17 times
Summary
This study looked for genetic causes of congenital heart disease (heart problems present at birth) in families from Uganda and Nigeria. Over 1,200 people took part, including affected children and their parents. Researchers used advanced DNA testing to find gene changes linked to the condition, but no treatments or cures were tested.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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1,233 people
The number who actually took part.
- Started
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Sep 2013
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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, physical examination, medical history, and review of medical record.
- Ages
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1 month to 115 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Childrens National Medical Center
Washington D.C., District of Columbia, 20010, United States
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