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Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease

RECRUITINGSponsored by University of North Carolina, Chapel Hill
Actively Recruiting
SponsorUniversity of North Carolina, Chapel Hill
Started2004-01
Est. completion2027-04
Eligibility
Healthy vol.Accepted
Locations1 site
View on ClinicalTrials.gov →

NCT00807482

Summary

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.

Eligibility

Healthy volunteers accepted
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.

Conditions2

Heart DiseaseKartagener Syndrome

Locations1 site

The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
Kelli Sullivan919-962-9786kelli_sullivan@med.unc.edu

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