# Characterizing the upper airway manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies

> **NIH NIH U54** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2022 · $217,335

## Abstract

Abstract Project 3
The morbidity of upper airway disease in primary ciliary dyskinesia (PCD) and primary immunodeficiencies (PID)
is not well defined. 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 treatment regimens have not been established. The main objective of this project is to characterize and
compare the upper airway phenotypes in PCD and PID and to collect critical data to inform the design of future
clinical trials of treatment of the upper airway and middle ear disease.
This project has three main specific aims: In Aim 1, we will characterize and compare the impact of PCD and
PID sinonasal disease on patient experience using three primary endpoints: clinical features, quality of life, and
measures of olfactory function. Sub-aim 1a will characterize sinus anatomy and disease severity by nasal
endoscopy and CT imaging, employing validated scoring systems, while Sub-aim 1b will evaluate and compare
mucus composition (mucins, proteins, inflammatory markers, bacteria) of the sinuses in PCD and PID. In Aim 2,
we will characterize and compare the impact of recurrent otitis media on clinical features, conductive and
sensorineural hearing loss in children and adults with PCD and PID. In Aim 3, we will determine whether
relationships exist between otolaryngological phenotypes (evaluated in Aims 1 and 2) and specific ultrastructural
defects and genotypes in participants with PCD.
In this cross-sectional, observational, multicenter study, participants will be recruited from four Consortium sites:
University of North Carolina (UNC), McGill University (MU), University of Toronto, Hospital for Sick Children (UT-
HSC) and Washington University at St. Louis (WUSTL). We will recruit 200 participants equally distributed
between individuals diagnosed with PCD and PID; each participant will participate in a single study visit.
We anticipate that these investigations will discern the clinical, anatomical, and pathophysiological phenotypes
of paranasal sinus disease in PCD compared to 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.

## Key facts

- **NIH application ID:** 10460552
- **Project number:** 5U54HL096458-19
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** Stephanie Duggins Davis
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $217,335
- **Award type:** 5
- **Project period:** 2004-08-06 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10460552

## Citation

> US National Institutes of Health, RePORTER application 10460552, Characterizing the upper airway manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies (5U54HL096458-19). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10460552. Licensed CC0.

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