dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02430376|
Recruitment Status : Completed
First Posted : April 30, 2015
Last Update Posted : March 11, 2019
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
- To find gene mutations in people with Pentalogy of Cantrell (POC) or other related syndromes.
- PCGC data and DNA samples that are open to study by the public.
- 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|
|Study Type :||Observational|
|Actual Enrollment :||3280 participants|
|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|
- To identify novel genetic mutations associated with the disease Pentalogy of Cantrell [ Time Frame: Ongoing ]
- To identify the molecular mechanisms underlying the congenital disease Pentalogy of Cantrell, to aid in the development of novel therapeutic strategies. [ Time Frame: Ongoing ]
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
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Robert S Adelstein, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|