Clinical trial Recruiting at 1 site Observational

Exploring the genetics behind congenital heart disease

Official title: Genetic Testing of Individuals and Families With Congenital Heart Disease

Run by Nationwide Children's Hospital · NCT01192048 · Data updated 2026-11-12

This study is trying to find out the genetic reasons behind congenital heart disease by looking at the DNA of people with the condition and their families.

Quick facts

Study typeObservational
SexAll
Enrollment5000 (estimated)
SponsorNationwide Children's Hospital
Academic / other
Locations1 site (Columbus, Ohio)
StatusRecruiting
StartedDecember 2009
Main results expectedDecember 2030
Study endsDecember 2030
Registry record updatedApril 7, 2026
Trial IDNCT01192048 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include individuals diagnosed with congenital heart disease or those related to individuals with this condition.

Probably not a fit

Healthy individuals who are not related to anyone with congenital heart disease may not receive any benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to identify genetic causes of congenital heart disease (CHD) using whole genome sequencing (WGS) and traditional genetic techniques. By analyzing genetic material from individuals diagnosed with CHD and their families, the study seeks to uncover the genetic factors contributing to both familial and isolated cases of this common birth defect. The research will involve blood sample collection and data analysis from various cohorts, including families and trios. The goal is to enhance understanding of the genetic underpinnings of CHD, which remains largely unknown despite its prevalence.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and potential targeted therapies for congenital heart disease.

How similar studies have gone: Other studies utilizing genetic sequencing approaches have shown promise in identifying genetic causes of congenital heart disease, suggesting this methodology could be effective.

Who can join: the full rules

Show full inclusion / exclusion 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

Where it's running

  • Nationwide Children's Hospital
    Columbus, Ohio, United States
    Recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.