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Genetics of Congenital Heart Disease

NCT01192048 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 5000

Last updated 2026-04-07

No results posted yet for this study

Summary

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.

Conditions

  • Congenital Heart Disease

Interventions

OTHER

Blood Sample Collection

Blood sample collection for direct sequencing, microarray, single nucleotide polymorphism, whole-genome array comparative genomic hybridization DNA analyses, and/or whole exome or genome sequencing.

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    collaborator NIH

  • Nationwide Children's Hospital

    lead OTHER

Principal Investigators

  • Vidu Garg, MD · Nationwide Children's Hospital

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-12-31
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01192048 on ClinicalTrials.gov