Mutations in Genes Associated With Pentalogy of Cantrell
Data Collection
Collected at a single point in time - Cross-sectionalCongenital Abnormalities+3
+ Abnormalities, Multiple
+ Nervous System Malformations
Family-Based
Studying health outcomes within families in order to identify genetic or familial contributions to disease.Summary
Study start date: September 15, 2004
Actual 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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.59 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Family-Based
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Until 100 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
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
Primary Objectives
Secondary Objectives
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
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, United StatesSee the locationBaylor College of Medicine
Houston, United States