An observational study in Pentalogy of Cantrell, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Completed at 2 sites in United States. Open to participants aged Up to 100 Years. Per ClinicalTrials.gov, last updated 2020-10-08.
Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational
This study will collect blood, urine, and other tissue samples from patients with Pentalogy of Cantrell (POC) and other inherited diseases that may involve mutations in non-muscle myosin II-B heavy chain (MYH10). We will also collect samples from the relatives of affected individuals. POC is a very rare disorder in which patients have a combination of severe defects of the middle of the chest including the sternum (breastbone), diaphragm, heart, and abdominal wall. The defect are apparent before birth or at birth.
Participants may undergo a medical evaluation that could include a medical history routine blood tests, urine collection, chest x-ray, and electrocardiogram. In addition, blood, urine, saliva, buccal swab or tissue samples may be collected for protein and gene studies. The blood is drawn through a very small needle placed in an arm vein. Children may choose to have a buccal (cheek) sample taken instead of blood draw. Buccal samples can be collected by a cheek swab, in which a soft brush is rubbed on the inside lining of the mouth, or by having the child hold a tablespoon of mouthwash in his or her mouth for a full minute and then spit the mouthwash into a container. In addition, tissue samples may be collected from patients if they undergoing any surgical procedures that may be required as part of their general medical care.
Some of the cells obtained from patients or their relatives may be used to establish cell lines (a living tissue sample) that can be grown in the laboratory and used for experiments.
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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.
National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,117 studies on the registry; 71 are open to participants now.
Of its 57 completed or terminated interventional studies of FDA-regulated products, 49 (86%) have results posted.
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Primary clinical
i. Index Cases
ii. Relatives of Index Cases
iii. Fetal tissue:
Research use of the fetal tissue in accordance to NIH Division of Intramural Research (DIR) Program fetal tissue policy guidelines:
EXCLUSION CRITERIA:
Subjects seen at the Clinical Center - Those subjects that are less than or equal to 2 years of age and older.
Index cases
Relatives of Index Cases
Fetal tissue
Identify the gene(s) mutation (s) that causes Pentalogy of Cantrell
Identification of novel genes related to Pentalogy of Cantrell
Time frame: ongoing
Since mutations in NM IIB may not be the sole cause of POC, we also intend to identify any other gene(s) mutation(s) that might be thecause of POC.
Identifying any other gene(s) mutation(s) that might be the cause of POC.
Time frame: Ongoing
We may wish to procure tissues from patients with nonmuscle myosin IIA and IIC mutations in order to study the mechanism underlyingthese abnormalities.
Studying the mechanism underlying these abnormalities in procuredtissues from patients with nonmuscle myosin IIA and IIC mutations.
Time frame: Ongoing
This study is completed, as verified in Oct 2020. You cannot join it, but the record below documents what was studied.
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Pentalogy of Cantrell
National Heart, Lung, and Blood Institute (NHLBI)