Clinical Trial: Genetic Study of Patients With Primary Ciliary Dyskinesia

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Genetic Study of Patients With Primary Ciliary Dyskinesia

Brief Summary:

OBJECTIVES:

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

II. Identify the genetic mutations associated with this disease.

Detailed 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.

Sponsor: National Center for Research Resources (NCRR)

Current Primary Outcome:

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Center for Research Resources (NCRR)

Dates:
Date Received: May 2, 2000
Date Started: February 2000
Date Completion:
Last Updated: June 23, 2005
Last Verified: December 2003