Status:
COMPLETED
Mutations in Genes Associated With Pentalogy of Cantrell
Lead Sponsor:
National Heart, Lung, and Blood Institute (NHLBI)
Conditions:
Pentalogy of Cantrell
Eligibility:
All Genders
Up to 100 years
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 ch...
Detailed Description
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 rela...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- i. Index Cases
- 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.
- 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.
- ii. Relatives of Index Cases
- 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.
- 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:
- 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.
- Research use of the fetal tissue in accordance to NIH Division of Intramural Research (DIR) Program fetal tissue policy guidelines:
- No profits will be involved;
- NIH researchers will have no involvement in the termination of pregnancy, and
- 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.
Exclusion
Key Trial Info
Start Date :
September 15 2004
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 6 2019
Estimated Enrollment :
59 Patients enrolled
Trial Details
Trial ID
NCT00083499
Start Date
September 15 2004
End Date
September 6 2019
Last Update
October 8 2020
Active Locations (2)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
2
Baylor College of Medicine
Houston, Texas, United States, 77030