Ignite Creation Date:
2024-05-05 @ 11:35 AM
Last Modification Date:
2024-10-26 @ 9:10 AM
Study NCT ID:
NCT00083499
Status:
COMPLETED
Last Update Posted:
2020-10-08
First Post:
2004-05-25
Brief Title:
Mutations in Genes Associated With Pentalogy of Cantrell
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Mutations in Genes Associated With Pentalogy of Cantrell
Status:
COMPLETED
Status Verified Date:
2020-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
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
Detailed Description:
The purpose of this multisite protocol is to collect protein DNA and RNA from blood sputum urine andor 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 exomegenome sequencing of probands their parents and if available the affected relatives of probands to look for any exomicgenomic 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 04-H-0202 | None | None | None |