Expired Study
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Chapel Hill, North Carolina 27599


Purpose:

OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.


Study summary:

PROTOCOL OUTLINE: Participants undergo a scrape biopsy acquisition of nasal cells for ciliary studies, a chest radiograph, sinus radiographs, lung function tests, sputum cultures, nitric oxide measurement, and an ear, nose and throat evaluation to screen for primary ciliary dyskinesia (PCD). Blood collection and/or a buccal scrape is also performed for genetic studies. Genetic studies include molecular linkage analyses, genetic mapping, and gene mutation identification based on large deletions. Microsatellite markers are used to identify polymorphism. Genetic counseling is provided to all participants.


Criteria:

- Histologically or cytologically confirmed primary ciliary dyskinesia (PCD) - Family members of patients with PCD


NCT ID:

NCT00005650


Primary Contact:

Study Chair
Peadar G. Noone
University of North Carolina


Backup Contact:

N/A


Location Contact:

Chapel Hill, North Carolina 27599
United States



There is no listed contact information for this specific location.

Site Status: N/A


Data Source: ClinicalTrials.gov

Date Processed: September 19, 2017

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