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Mutations in Genes Associated With Pentalogy of Cantrell
NCT00083499 · View on ClinicalTrials.gov ↗
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. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. 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 381 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Pentalogy of Cantrell appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00083499 reports 2 study locations spanning 2 distinct geographic areas — top geographies include Maryland, Texas. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
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. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00083499?
This trial is sponsored by National Heart, Lung, and Blood Institute (NHLBI), which has 381 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
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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