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Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
Sponsor: University of North Carolina, Chapel Hill
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.
Official title: Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
1800
Start Date
2004-01
Completion Date
2027-04
Last Updated
2025-05-23
Healthy Volunteers
Yes
Conditions
Locations (1)
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States