NCT04919018

Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 159 (actual)
• Sponsor: University of North Carolina, Chapel Hill · Academic / Other
• Sex: All
• Age: 5 Years – 45 Years
• Healthy volunteers: —

Summary

Though common, morbidities related to upper airway disease in primary ciliary dyskinesia (PCD) and primary immunodeficiencies (PID) have not been fully characterized. These conditions can be difficult to distinguish due to their overlapping phenotypes. The sinonasal and middle ear features are often identified as most problematic by patients and their families, and optimal, highly effective treatment regimens have not been established. The main objective of this project is to characterize and compare the upper airway phenotypes in individuals with confirmed diagnosis of PCD and PID, and to collect critical data to inform the design of future clinical trials of treatment of the upper airway diseases. The investigators anticipate that these investigations will discern the clinical, anatomical, and pathophysiological phenotypes of paranasal sinus disease in PCD and PID, identifying disease endpoints and biomarkers that differentiate these two overlapping disorders. Findings from these studies will also enhance our understanding of middle ear disease and associated hearing loss in a cross-sectional cohort of patients with PCD and PID. Ultimately, the long-term goal of our Consortium is to elucidate underlying phenotypes and genotypes of these diseases, potentially leading to novel therapeutics that will improve the lives of affected individuals. Given the COVID pandemic, certain procedures will have the option to be converted to telehealth visits to ensure compliance with local guidelines and participant safety.

Detailed description

Approximately 200 participants with a diagnosis of PCD (n=100) and PID (n=100) who will each participate in a single study visit will be recruited. 30 percent of participants will be under the age of 12 in both the PCD and PID cohorts. The investigators will use a systematic approach to the diagnostic evaluation of patients in order to identify characteristics which may distinguish between PID and PCD and serve as future clinical trial endpoints. This will include collection of relevant medical history, physical examination, sinonasal quality of life questionnaires, olfactory testing, bilateral audiometry and tympanometry, nasal endoscopy, sinus culture, analysis of mucus composition, Sinus CT scan, nasal nitric oxide measurement and a blood draw.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome
• Primary Immune Deficiency

Timeline

• Start date: 2021-06-09
• Primary completion: 2025-07-23
• Completion: 2025-07-23
• First posted: 2021-06-09
• Last updated: 2025-08-21

Locations

4 sites across 2 countries: United States, Canada