NCT00005650

Genetic Study of Patients With Primary Ciliary Dyskinesia

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 180 (planned)
• Sponsor: National Center for Research Resources (NCRR) · NIH
• Sex: All
• Age: 0 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Primary Ciliary Dyskinesia

Timeline

• Start date: 2000-02-01
• First posted: 2000-05-03
• Last updated: 2005-06-24

Locations

1 site across 1 country: United States