dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

NCT ID: NCT02430376

Last Updated: 2019-03-11

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 3280 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-04-25
• Study Completion Date: 2016-03-23

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.

Detailed Description

The purpose of this protocol is to identify genetic mutations in patients with the diagnosis of Pentalogy of Cantrell (POC) or other related syndromes. We will be looking for any exomic/genomic mutations that could be associated with this syndrome. We have produced a mouse model with a mutation in the gene encoding nonmuscle myosin IIB which exhibit problems with ventral wall closure, including extrathoracic location of the heart (ectopia cordis) and defects in the abdominal wall with protrusion of the guts and liver. These mice have severe defects in both the heart and brain, and resemble humans born with POC, who manifest these same abnormalities, and so we take a special interest in mutations in nonmuscle myosin proteins.

Conditions

Pentalogy of Cantrell

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: RETROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• We will analyze data from subjects from congenital cardiovascular disease databases.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Robert S Adelstein, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Heart, Lung, and Blood Institute (NHLBI)

Locations

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, United States

Countries

United States

Other Identifiers

15-H-N111

Identifier Type: -

Identifier Source: secondary_id

999915111

Identifier Type: -

Identifier Source: org_study_id