Genetic Study of Patients With Primary Ciliary Dyskinesia
I. Characterize the clinical presentation of patients with primary ciliary dyskinesia.
II. Identify the genetic mutations associated with this disease.
Primary Ciliary Dyskinesia
|Study Design:||Observational Model: Natural History|
|Official Title:||Genetic Study of Patients With Primary Ciliary Dyskinesia|
|Study Start Date:||February 2000|
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.
|United States, North Carolina|
|University of North Carolina School of Medicine|
|Chapel Hill, North Carolina, United States, 27599-7070|
|Study Chair:||Peadar G. Noone||University of North Carolina|