Genetic Study of Patients With Primary Ciliary Dyskinesia

Completed

• Conditions: Primary Ciliary Dyskinesia

• Registration Number: NCT00005650
• Lead Sponsor: National Center for Research Resources (NCRR)

Brief Summary

OBJECTIVES:

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

II. Identify the genetic mutations associated with this disease.

Detailed 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 Timeline

• Study Start: 2000-02
• Study First Submitted: 2000-05-02
• Study First Submitted QC: 2000-05-02
• Study First Posted: 2000-05-03
• Status Verified: 2003-12
• Last Update Submitted: 2005-06-23
• Last Update Posted: 2005-06-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 180

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

University of North Carolina School of Medicine; 🇺🇸 Chapel Hill, North Carolina, United States