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NCT00083499

Mutations in Genes Associated With Pentalogy of Cantrell

Completed Last updated 8 October 2020
What this trial tests

trial in Pentalogy of Cantrell in 59 participants. Completed in 6 September 2019.

Timeline
15 September 2004
Primary endpoint
6 September 2019
6 September 2019

Quick facts

Lead sponsorNational Heart, Lung, and Blood Institute (NHLBI)
StatusCompleted
Study typeOBSERVATIONAL
Enrollment59
Start date15 September 2004
Primary completion6 September 2019
Estimated completion6 September 2019
Sites2 locations across United States

Conditions studied

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Who can join

Under 100, any sex, with Pentalogy of Cantrell. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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. ...

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.

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Data sources for this page

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