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Clinical Trial Summary

The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects. Some of these genes are associated with a milder clinical phenotype. This study seeks to determine if the milder phenotype is a result of mutations in a set of specific genes. The hypothesis is that subjects with PCD caused by mutations in the milder group will maintain a low, but significant rate of mucociliary clearance, while patients with mutations in genes in the more severe group will have a complete absence of mucociliary clearance. These studies will help inform future treatment strategies.


Clinical Trial Description

Participants will undergo screening with basic physical exam and lung function testing at the start of the study. Participants will then inhale a radiolabeled substance and undergo medical imaging to measure the clearance of mucus in the airways. Albuterol will be administered after the first imaging is completed. Lung function testing will be repeated. Finally, medical imaging will be repeated two more times to further look at clearance of mucus in the lungs. The study will be completed in one day and will last about 6 hours. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT04901715
Study type Interventional
Source University of North Carolina, Chapel Hill
Contact Corinne N Lawler, MR
Phone 919-962-9841
Email corinne.lawler@unc.edu
Status Recruiting
Phase Early Phase 1
Start date June 10, 2021
Completion date April 30, 2024

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