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

NCT04919018 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 159

Last updated 2025-08-21

No results posted yet for this study

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.

Conditions

  • Primary Ciliary Dyskinesia
  • Kartagener Syndrome
  • Primary Immune Deficiency

Sponsors & Collaborators

  • Washington University School of Medicine

    collaborator OTHER

  • The Hospital for Sick Children

    collaborator OTHER

  • McGill University

    collaborator OTHER

  • Children's Hospital Medical Center, Cincinnati

    collaborator OTHER

  • National Heart, Lung, and Blood Institute (NHLBI)

    collaborator NIH

  • University of North Carolina, Chapel Hill

    lead OTHER

Principal Investigators

  • Stephanie Davis, MD · University of North Carolina, Chapel Hill

Eligibility

Min Age
5 Years
Max Age
45 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-06-09
Primary Completion
2025-07-23
Completion
2025-07-23

Countries

  • United States
  • Canada

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04919018 on ClinicalTrials.gov