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

Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: t
View:

• 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.

Locations
United States
North Carolina
The University of North Carolina at Chapel Hill
RECRUITING
Chapel Hill
Time Frame
Start Date: 2004-01
Estimated Completion Date: 2027-04
Participants
Target number of participants: 1800
Treatments
1
People who have been definitively diagnosed with primary ciliary dyskinesia (PCD).
Sponsors
Leads: University of North Carolina, Chapel Hill
Collaborators: National Heart, Lung, and Blood Institute (NHLBI)

This content was sourced from clinicaltrials.gov