Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease

Description

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.

Conditions

Kartagener Syndrome

Study Overview

Study Details

Study overview

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.

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

Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease

Condition
Kartagener Syndrome
Intervention / Treatment

-

Contacts and Locations

Chapel Hill

The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States, 27599

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

University of North Carolina, Chapel Hill,

Kenneth R. Olivier, MD, MPH, PRINCIPAL_INVESTIGATOR, University of North Carolina, Chapel Hill

Study Record Dates

2025-04