Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT02430376 |
| Other study ID # |
999915111 |
| Secondary ID |
15-H-N111 |
| Status |
Completed |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
April 25, 2015 |
| Est. completion date |
March 23, 2016 |
Study information
| Verified date |
March 7, 2019 |
| Source |
National Institutes of Health Clinical Center (CC) |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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.
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.
