Mutations in Genes Associated With Pentalogy of Cantrell
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00083499|
Recruitment Status : Completed
First Posted : May 25, 2004
Last Update Posted : October 8, 2020
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.
|Condition or disease|
|Pentalogy of Cantrell|
|Study Type :||Observational|
|Actual Enrollment :||59 participants|
|Official Title:||Mutations in Genes Associated With Pentalogy of Cantrell|
|Actual Study Start Date :||September 15, 2004|
|Actual Primary Completion Date :||September 6, 2019|
|Actual Study Completion Date :||September 6, 2019|
Relatives of Index Cases
- Identify the gene(s) mutation (s) that causes Pentalogy of Cantrell [ Time Frame: ongoing ]Identification of novel genes related to Pentalogy of Cantrell
- 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. [ Time Frame: Ongoing ]Identifying any other gene(s) mutation(s) that might be the cause of POC.
- We may wish to procure tissues from patients with nonmuscle myosin IIA and IIC mutations in order to study the mechanism underlyingthese abnormalities. [ Time Frame: Ongoing ]Studying the mechanism underlying these abnormalities in procuredtissues from patients with nonmuscle myosin IIA and IIC mutations.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00083499
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|United States, Texas|
|Baylor College of Medicine|
|Houston, Texas, United States, 77030|
|Principal Investigator:||Robert S Adelstein, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|