Pentalogy of CantrellNCT02430376
dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell
An observational study of Pentalogy of Cantrell, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pentalogy of Cantrell
- How many people
- 3,280 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Apr 2015to 23 Mar 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
- We will analyze data from subjects from congenital cardiovascular disease databases.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
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
Read more
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.
Read the 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.
- Conditions
- Pentalogy of Cantrell
- Keywords
- Non-Muscle Myosin
- Medical subject headings
- Pentalogy of Cantrell
What is being measured
The primary outcome is the main question the study is designed to answer.
To identify novel genetic mutations associated with the disease Pentalogy of Cantrell
Measured: 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.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2015 (estimated)
- Study start25 Apr 2015
- Primary completion23 Mar 2016
- Study completion23 Mar 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pentalogy of CantrellStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Retrospective
- Enrolment
- 3,280 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Robert S Adelstein, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02430376
- Sponsor's protocol ID
- 999915111
- Other IDs
- 15-H-N111
- Status last verified
- 7 Mar 2019
- First submitted
- 25 Apr 2015
- Last updated
- 11 Mar 2019
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Mar 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell
- ClinicalTrials.gov ID
- NCT02430376
- Acronym / sponsor ID
- 999915111
- Conditions
- Pentalogy of Cantrell
- Keywords
- Non-Muscle Myosin
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,280 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 25 Apr 2015
- Primary completion
- 23 Mar 2016 (actual)
- Study completion
- 23 Mar 2016 (actual)
- First posted
- 30 Apr 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To identify novel genetic mutations associated with the disease Pentalogy of Cantrell
Time frame: Ongoing
1 secondary outcome
To identify the molecular mechanisms underlying the congenital disease Pentalogy of Cantrell, to aid in the development of novel therapeutic strategies.
Time frame: Ongoing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Mar 2019.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Robert S Adelstein, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pentalogy of Cantrell, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Mar 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To identify novel genetic mutations associated with the disease Pentalogy of Cantrell (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Mar 2019.