Clinical Trial: dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



Official Title: dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

Brief Summary:

Background:

Pentalogy of Cantrell (POC) is a syndrome that involves many heart abnormalities as well as large defects in the chest and abdominal wall. This often results in the heart and other organs being present outside the body at birth. Surgeons have learned to replace them and repair the heart. Researchers want to find possible gene changes that cause POC. To do this, they want to study data from the Pediatric Cardiovascular Genetics Consortium (PCGC) Cohort. The PCGC collects data and DNA samples from people with heart diseases and their families

Objectives:

- To find gene mutations in people with Pentalogy of Cantrell (POC) or other related syndromes.

Eligibility:

- PCGC data and DNA samples that are open to study by the public.

Design:

  • Researchers will study the data from the PCGC.
  • The gene testing being done in this study was consented to in the original studies. No new consent or waiver request is required.
  • The study will last 1 year.