Genetic Study of Patients With Primary Ciliary Dyskinesia

National Center for Research Resources (NCRR)

Status: Completed

Conditions: Primary Ciliary Dyskinesia

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00005650

UNCCH-GCRC-1395

NCRR-M01RR00046-1395

Details and patient eligibility

About

OBJECTIVES:

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

II. Identify the genetic mutations associated with this disease.

Full 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.

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

• Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
• Family members of patients with PCD