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dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

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ClinicalTrials.gov Identifier: NCT02430376
Recruitment Status : Completed
First Posted : April 30, 2015
Last Update Posted : March 11, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

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.

Condition or disease
Pentalogy of Cantrell

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.

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Study Type : Observational
Actual Enrollment : 3280 participants
Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell
Study Start Date : April 25, 2015
Actual Primary Completion Date : March 23, 2016
Actual Study Completion Date : March 23, 2016

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. To identify novel genetic mutations associated with the disease Pentalogy of Cantrell [ Time Frame: Ongoing ]

Secondary Outcome Measures :
  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 ]


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • We will analyze data from subjects from congenital cardiovascular disease databases.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02430376


Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
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Principal Investigator: Robert S Adelstein, M.D. National Heart, Lung, and Blood Institute (NHLBI)

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Responsible Party: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT02430376     History of Changes
Other Study ID Numbers: 999915111
15-H-N111
First Posted: April 30, 2015    Key Record Dates
Last Update Posted: March 11, 2019
Last Verified: March 7, 2019

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Non-Muscle Myosin

Additional relevant MeSH terms:
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Pentalogy of Cantrell
Neural Tube Defects
Nervous System Malformations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities