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Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease

Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways

Who can join

All ages · All sexes · Healthy volunteers welcome

Inclusion Criteria:

* Patients who have a high suspicion for the diagnosis of PCD, based on clinical features

Healthy Volunteers who have a family member with confirmed PCD.

About the study

The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect ciliary function and cause primary ciliary dyskinesia (PCD), which results in life-shortening lung disease. The long-term goal of this project is to develop better understanding of the underlying genetic variability that adversely modifies ciliary function, and predisposes to common airway diseases, such as asthma and chronic obstructive pulmonary disease.

Sponsor: University of North Carolina, Chapel Hill · Participants: 1,800 · Started: 2004-01

Contact the study team

Official record on ClinicalTrials.gov — NCT00807482

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.