Completed

Mutations in Genes Associated With Pentalogy of Cantrell

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What is being collected

Data Collection

Collected at a single point in time - Cross-sectional
Who is being recruted

Congenital Abnormalities
+3

+ Abnormalities, Multiple
+ Nervous System Malformations
Until 100 Years
See all eligibility criteria
How is the trial designed

Family-Based

Studying health outcomes within families in order to identify genetic or familial contributions to disease.
Observational
Study Start: September 2004
See protocol details

Summary

Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner
Study start date: September 15, 2004Actual date on which the first participant was enrolled.

The purpose of this multisite protocol is to collect protein, DNA, and RNA from blood, sputum, urine and/or tissue samples from patients with the diagnosis of Pentalogy of Cantrell (POC) or other related syndromes in order to identify possible causative genes. We will use whole exome/genome sequencing of probands, their parents, and, if available, the affected relatives of probands to look for any exomic/genomic mutations that could be associated with this syndrome. We have produced a mouse model with the mutant mice exhibiting 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. The mice, which have a single amino acid substitution in nonmuslce myosin II-B, have severe defects in both the heart and brain, and resemble humans born with POC, who manifest these same abnormalities.

Official TitleMutations in Genes Associated With Pentalogy of Cantrell 
NCT00083499
Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details
59 patients to be enrolledTotal number of participants that the clinical trial aims to recruit.
Family-Based
These studies involve members of the same family to explore how genetics and shared environments may contribute to a disease. They help researchers pinpoint inherited risk factors.

How participants are selected
Participants are selected without using randomization. They may be chosen based on convenience, access, or willingness to participate. This approach is common when random selection isn’t practical.
Another way to select participants is through a probability sample, where participants are chosen randomly, so everyone has an equal chance to be included.

How information is collected
Researchers collect data at a single point in time, offering a snapshot of health, exposures, or conditions in a specific population. These studies are useful for understanding current patterns and prevalence.Other Ways to Collect Data
Prospective
: These studies collect new data moving forward over time.

Retrospective
: These studies use existing medical records or past data.

Others
: Some studies use a mix of approaches or less common designs depending on the research goal.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
Any sexBiological sex of participants that are eligible to enroll.
Until 100 YearsRange of ages for which participants are eligible to join.
Healthy volunteers not allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Congenital Abnormalities
Abnormalities, Multiple
Nervous System Malformations
Nervous System Diseases
Neural Tube Defects
Pentalogy of Cantrell
Criteria

* INCLUSION CRITERIA: i. Index Cases 1. Those patients who have a diagnosis of POC or other related syndromes (as defined under Study Design) confirmed by telephone discussion between the investigators and the patient s physician. 2. Outside Institutions- All ages will be included 3. At the Clinical Center - Those subjects that are greater than or equal to 2 years of age and older. ii. Relatives of Index Cases 1. We may obtain samples from family members and/or relatives of those individuals who have a diagnosis of POC or other related syndrome confirmed by telephone discussion between the investigators and the referring physician with knowledge of the index case. 2. Outside Institutions - All ages will be included. At the Clinical Center - Those subjects that are greater than or equal to 2 years of age and older iii. Fetal tissue: 1. We may obtain samples from patients with a fetal diagnosis of POC or other related syndrome with diagnosis confirmed by telephone discussion between the investigators and the referring physician. 2. Research use of the fetal tissue in accordance to NIH Division of Intramural Research (DIR) Program fetal tissue policy guidelines: 1. No profits will be involved; 2. NIH researchers will have no involvement in the termination of pregnancy, and 3. The tissue must be obtained in accordance with Federal, state, and local law including those that govern basic research using human fetal tissue and research involving the transplantation of fetal tissue. EXCLUSION CRITERIA: Subjects seen at the Clinical Center - Those subjects that are less than or equal to 2 years of age and older.


Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Study Objectives
Study Objectives
Primary Objectives

Identification of novel genes related to Pentalogy of Cantrell
Secondary Objectives

Identifying any other gene(s) mutation(s) that might be the cause of POC.

Studying the mechanism underlying these abnormalities in procuredtissues from patients with nonmuscle myosin IIA and IIC mutations.

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.
This study has 2 locations
Suspended
National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, United StatesSee the location
Suspended
Baylor College of MedicineHouston, United States

Completed2 Study Centers
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