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NCT00083499 · ClinicalTrials.gov registry record
Mutations in Genes Associated With Pentalogy of Cantrell
A clinical trial of Pentalogy of Cantrell, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- Completed
- Registry status
- 59
- Enrollment target
- 2
- Study locations
NCT00083499 is a study of Pentalogy of Cantrell that has completed, run by National Heart, Lung, and Blood Institute (NHLBI). The registered enrollment target is 59 participants. The trial reports 2 study locations across 2 states.
The verdict
NCT00083499, a study of Pentalogy of Cantrell, has completed, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- COMPLETED
- Registry status
- 59 participants
- Enrollment target
- 2
- Study locations
Study 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. ...
Conditions Studied
Study Locations (2)
Maryland
- National Institutes of Health Clinical Center, 9000 Rockville Pike - Bethesda
Texas
- Baylor College of Medicine - Houston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 59 participants |
| Start Date | 2004-09-15 |
| Est. Completion | 2019-09-06 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00083499
The ClinicalTrials.gov registry entry for NCT00083499 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 59 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Heart, Lung, and Blood Institute (NHLBI), which has 501 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with Pentalogy of Cantrell appearing as the primary indexed condition, and to 0 interventions.
NCT00083499 reports 2 study locations spanning 2 distinct geographic areas - top geographies include Maryland, Texas.
Frequently Asked Questions
What is clinical trial NCT00083499 about?
NCT00083499 is a clinical study titled "Mutations in Genes Associated With Pentalogy of Cantrell". 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 ...
What is the current status of trial NCT00083499?
This trial is currently completed. The enrollment target is 59 participants. The study started on 2004-09-15. Estimated completion is 2019-09-06.
What conditions does trial NCT00083499 study?
This clinical trial studies the following conditions: Pentalogy of Cantrell.
Who is sponsoring clinical trial NCT00083499?
This trial is sponsored by National Heart, Lung, and Blood Institute (NHLBI), which has 501 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00083499 being conducted?
This trial has 2 study locations across Maryland, Texas. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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