NCT04901715

Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype

• Status: Completed
• Phase: EARLY_Phase 1
• Study type: Interventional
• Enrollment: 27 (actual)
• Sponsor: University of North Carolina, Chapel Hill · Academic / Other
• Sex: All
• Age: 12 Years – 90 Years
• Healthy volunteers: Accepted

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.

Detailed 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.

Conditions

• Primary Ciliary Dyskinesia

Interventions

Type	Name	Description
DRUG	Albuterol	Albuterol HFA Metered Dose Inhaler (90mcg/puff). Subjects to use 4 puffs one time.
DIAGNOSTIC_TEST	Technetium99m - Sulfur Colloid (Tc99m-SC)	Aerosolized radiolabeled Tc99m-sulfur colloid will be delivered using a modified Pari-LC Star nebulizer. The activity of Tc99m-SC loaded in the nebulizer will be adjusted to provide an estimated 40 microcurie (µCi) deposited in the lung for the MCC/CC scan. Patients between the age 12-18 years old will receive three quarters of the adult dose to account for the smaller lung volume.

Timeline

• Start date: 2021-06-10
• Primary completion: 2024-07-22
• Completion: 2024-07-22
• First posted: 2021-05-25
• Last updated: 2025-09-05
• Results posted: 2025-09-05

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study