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Genetics of Congenital Heart Disease
Genetic Testing of Individuals and Families With Congenital Heart Disease
Who can join
All ages · All sexes · Healthy volunteers welcome
Full eligibility criteria
Inclusion Criteria: * Subjects must have a diagnosis of Congenital Heart Disease or be related to individuals with Congenital Heart Disease. Exclusion Criteria: * Healthy individuals unrelated to those with Congenital Heart Disease
About the study
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown. Numerous epidemiologic studies have demonstrated evidence that genetic factors likely play a contributory, if not causative, role in CHD. While numerous genes have been identified by us and other investigators using traditional genetic approaches, these genes account for a minority of the non-syndromic CHDs. Therefore, we are now utilizing whole genome sequencing (WGS), with the addition of more traditional genetic techniques such as chromosomal microarray or traditional linkage analysis, to identify genetic causes of familial and isolated CHD. With WGS we are able to sequence all of the genetic material of an individual and apply different data analysis techniques based on whether we are analyzing a multiplex family or a cohort of trios (mother, father and child with CHD) with a specific isolated CHD. Therefore, WGS is a robust method for identification of novel genetic causes of CHD which will have important diagnostic and therapeutic consequences for these children.
What is being tested
- Blood Sample Collection (other)
Sponsor: Nationwide Children's Hospital · Participants: 5,000 · Started: 2009-12
Contact the study team
- Katherine M Spayde, MS, CGC · Phone: 614-355-6388
Official record on ClinicalTrials.gov — NCT01192048
Locations in the U.S.
| Ohio | Nationwide Children's Hospital, Columbus |
Conditions
From ClinicalTrials.gov, data retrieved Sep 29, 2026. Each study sets its own eligibility; the study team decides who can join.