dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

March 8, 2019 updated by: National Heart, Lung, and Blood Institute (NHLBI)

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

3280

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
To identify novel genetic mutations associated with the disease Pentalogy of Cantrell
Time Frame: Ongoing
Ongoing

Secondary Outcome Measures

Outcome Measure
Time Frame
To identify the molecular mechanisms underlying the congenital disease Pentalogy of Cantrell, to aid in the development of novel therapeutic strategies.
Time Frame: Ongoing
Ongoing

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

  • Principal Investigator: Robert S Adelstein, M.D., National Heart, Lung, and Blood Institute (NHLBI)

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 25, 2015

Primary Completion (Actual)

March 23, 2016

Study Completion (Actual)

March 23, 2016

Study Registration Dates

First Submitted

April 25, 2015

First Submitted That Met QC Criteria

April 25, 2015

First Posted (Estimate)

April 30, 2015

Study Record Updates

Last Update Posted (Actual)

March 11, 2019

Last Update Submitted That Met QC Criteria

March 8, 2019

Last Verified

March 7, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 999915111
  • 15-H-N111

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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