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Completed

NCT Number: NCT02430376

dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

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.

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Key information

Conditions

Pentalogy of Cantrell Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Nervous System Diseases Nervous System Malformations Neural Tube Defects

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. To identify novel genetic mutations associated with the disease Pentalogy of Cantrell

    Time frame: Ongoing

Secondary outcomes

  1. To identify the molecular mechanisms underlying the congenital disease Pentalogy of Cantrell, to aid in the development of novel therapeutic strategies.

    Time frame: Ongoing

Sponsors and collaborators

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Nih

Registry information

Important dates

Study start
2015
Primary completion
2016
Study completion
2016
First posted
Apr 30, 2015
Registry last updated
Mar 11, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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