Genetic Study of Patients With Primary Ciliary Dyskinesia
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 180
- Locations
- 1
Study Overview
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 Design
- Study Type
- Observational
- Observational Model
- Natural History
Eligibility Criteria
- Ages
- 0 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided