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NCT00083499
Mutations in Genes Associated With Pentalogy of Cantrell
trial in Pentalogy of Cantrell in 59 participants. Completed in 6 September 2019.
6 September 2019
Quick facts
| Lead sponsor | National Heart, Lung, and Blood Institute (NHLBI) |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 59 |
| Start date | 15 September 2004 |
| Primary completion | 6 September 2019 |
| Estimated completion | 6 September 2019 |
| Sites | 2 locations across United States |
Conditions studied
- Pentalogy of Cantrell — all drugs for Pentalogy of Cantrell →
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.
Verify or expand the search:
- PubMed search for NCT00083499
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT00083499 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by National Heart, Lung, and Blood Institute (NHLBI)
- Last refreshed: 8 October 2020
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT00083499.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing