Genetic Study of Patients With Primary Ciliary Dyskinesia

Status Completed

Clinical Trial Summary

OBJECTIVES:

I. Characterize the clinical presentation of patients with primary ciliary dyskinesia.

II. Identify the genetic mutations associated with this disease.

Clinical Trial Description

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. ;

Study Design

Observational Model: Natural History

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00005650
Study type	Observational
Source	National Center for Research Resources (NCRR)
Contact
Status	Completed
Phase	N/A
Start date	February 2000

View Details

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