Exploring the genetics behind congenital heart disease
Genetic Testing of Individuals and Families With Congenital Heart Disease
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 type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Sex | All |
| Sponsor | Nationwide Children's Hospital Academic / other |
| Locations | 1 site (Columbus, Ohio) |
| Trial ID | NCT01192048 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with congenital heart disease or those related to individuals with this condition.
Not a fit: Healthy individuals who are not related to anyone with congenital heart disease may not receive any benefit from this study.
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 performed: Other studies utilizing genetic sequencing approaches have shown promise in identifying genetic causes of congenital heart disease, suggesting this methodology could be effective.
Eligibility criteria
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 this trial is running
Columbus, Ohio
- Nationwide Children's Hospital — Columbus, Ohio, United States (Recruiting)
Study contacts
- Principal investigator: Vidu Garg, MD — Nationwide Children's Hospital
- Study coordinator: Katherine M Spayde, MS, CGC
- Email: katherine.spayde@nationwidechildrens.org
- Phone: 614-355-6388
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.