Primary Ciliary DyskinesiaNCT04919018
Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies
An observational study of Primary Ciliary Dyskinesia and Kartagener Syndrome, run by University of North Carolina, Chapel Hill at 4 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 to 45 years
- Conditions the study is for
- Primary Ciliary Dyskinesia, Kartagener Syndrome, Primary Immune Deficiency
- How many people
- 159 participants
- Where
- 4 sitesin 2 countries
- Study dates
- 9 Jun 2021to 23 Jul 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 45 years
- All sexes
- Child, Adult
Study population: Subjects with definite primary ciliary dyskinesia and primary immune deficiencies
Who may be able to join
- Overall inclusion criteria for PCD and PID:
- Ages ≥ 5-45 years.
- Informed consent, and assent from minors.
- Clinical features consistent with PCD plus
- At least one diagnostic test consistent with PCD:
- Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis.
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- Ciliary ultrastructural defect by transmission electron microscopy known to be disease causing, including outer dynein arm defects, outer and inner dynein arm defects, or inner dynein arm defects with microtubular disorganization.
- A clinical diagnosis of PID known to be associated with an increased risk of infections, as defined by the European Society of Immunodeficiencies (ESID) registry, AND a genetic confirmation with a known or likely pathogenic variant.
- OR a diagnosis of a common variable immunodeficiency (CVID) as defined by the ESID registry:
- At least one of the following:
- Increased susceptibility to infection
- Autoimmune manifestations
- Granulomatous disease
- Unexplained polyclonal lymphoproliferation
- Affected family member with antibody deficiency
- AND marked decrease of IgG and IgA with or without low IgM levels
- AND at least one of the following:
- Poor antibody response to vaccines (and/or absent isohemagglutinins)
- Low switched memory B cells (<70 percent of age-related normal value)
- AND secondary causes of hypogammaglobulinemia have been excluded (e.g., infection, protein loss, medication, malignancy)
- AND diagnosis established after the 4th year of life
- AND no evidence of profound T cell deficiency
Who cannot join
- Inability to undergo study procedures
- Reported increased respiratory symptoms within 3 weeks before the scheduled visit
- Congenital craniofacial abnormalities (cleft lip and/or palate, hemifacial microsomia) that may result in otologic or sinus disease
- Congenital hearing loss
- Diagnosis of Trisomy 21, Kabuki syndrome, DiGeorge anomaly or syndrome, 22q11 deletion syndrome, or CHARGE syndrome
- History of intranasal illicit drug use (i.e. cocaine) or intranasal abuse of over the counter or prescription drugs (i.e. oxycodone, acetaminophen, etc.)
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- Pregnancy
- Known selective IgA deficiency, specific antibody deficiency (SPAD), selective IgG subclass deficiency, selective IgM deficiency, mannose-binding lectin deficiency, as well as inborn errors of immunity (IEIs) which are not known to be associated with an increased risk of infections (e.g. autoinflammatory syndromes; unclassified disorders of immune dysregulation)
- Medical condition that is known to cause secondary immunodeficiency, including human immunodeficiency virus (HIV) infection, acquired immunodeficiency syndrome (AIDS), and/or active malignancy
- Patients ever having received gene therapy, hematopoietic stem cell transplant, solid organ transplant, or thymus transplant
- Treatment with targeted immune modulators or immune modifiers
- Treatment with chronic systemic steroids
Trial locations and contacts
4 sites in 2 countries.
4 sites in 2 countries
United States2 sites
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
Washington University in St. Louis
St Louis, Missouri, 63130
Canada2 sites
McGill University
Montreal, Quebec, H4A 3J1
The Hospital for Sick Children
Toronto, Ontario, M5G 0A4
About this study
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.
Read the 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.
- Medical subject headings
- Ciliary Motility Disorders, Kartagener Syndrome, Primary Immunodeficiency Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Subjects with a confirmed diagnosis of PCD | |
| Primary Immune Deficiency (PID) | Subjects with a confirmed diagnosis of PID |
What is being measured
The primary outcome is the main question the study is designed to answer.
Mean Sinonasal Quality of Life SNOT-22 Score in PCD and PID
SNOT-22 is a subject-completed questionnaire that consists of 22 questions. Each item is rated as follows: 0=no problem, 1=very mild problem, 2=mild or slight problem, 3=moderate problem, 4=severe problem, 5=problem as bad as it can be. The total score can range from 0-110, 0 being the best and 110 being the worst.
Measured: During a single 6-hour visit
Mean Quality of Life SN-5 Score in PCD and PID
The Sinus and nasal quality of life survey questionnaire (SN-5) is a quality of life assessment completed by a subject/parent consisting of 5 specific symptoms-related questions (answered on a 7-point Likert scale on the frequency of symptoms, 1=none of the time, 7=all of the time), and 1 general overall quality of life question (answered on a visual analog scale from 0 to 10, worst to best).
Measured: During a single 6-hour visit
Mean Score of Burghart Sniffin' Sticks Threshold Test in PCD and PID
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the the threshold test, subjects will identify an odor at varying concentrations (Continuous Variable Range: 1-16, 1 being the lowest score and 16 being the highest score).
Measured: During a single 6-hour visit
Mean Score of Burghart Sniffin' Sticks Discrimination Test in PCD and PID
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the discrimination test, subjects will select which odor smells different from several options (Continuous Variable Range: 0-16, 0 being the lowest score and 16 being the highest score).
Measured: During a single 6-hour visit
Mean Score of Burghart Sniffin' Sticks Identification Test in PCD and PID
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the identification test, subjects ages 12-45 will identify an odor from four choices (Continuous Variable Range: 0-16, 0 being the lowest score and 16 being the highest score).
Measured: During a single 6-hour visit
Mean Score of Burghart Sniffin' Kids Identification Test in PCD and PID
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the identification test, subjects ages 5-11 will identify an odor from four choices (Continuous Variable Range: 0-14, 0 being the lowest score and 14 being the highest score).
Measured: During a single 6-hour visit
Mean Pure Tone Average Air Conduction in PCD and PID
Audiometry completed by the research team to determine pure tone average in decibels (dB) (Continuous Variable Range: 0-110 dB)
Measured: During a single 6-hour visit
Mean Pure Tone Average Bone Conduction in PCD and PID
Audiometry completed by the research team to determine pure tone average in decibels (dB) (Continuous Variable Range: 0-110 dB)
Measured: During a single 6-hour visit
Characterization of Tympanograms in PCD and PID
Research team will conduct tympanometry and assign one of four types (Type A, Type B, Typc C or large volume) to the completed tympanogram
Measured: During a single 6-hour visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jun 2021
- Study start9 Jun 2021
- Primary completion23 Jul 2025
- Study completion23 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Ciliary DyskinesiaStudies of the same condition, open and under way.
- More trials run by University of North Carolina, Chapel HillThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 159 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of North Carolina, Chapel Hill
- Sponsor type
- University, hospital or other
- Collaborators
- Washington University School of Medicine, The Hospital for Sick Children, McGill University, Children's Hospital Medical Center, Cincinnati, National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Sponsor
- Investigators
- Stephanie Davis, MD, Principal investigator, University of North Carolina, Chapel Hill
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04919018
- Sponsor's protocol ID
- 20-1170
- Other IDs
- 5U54HL096458-17
- Status last verified
- Aug 2025
- First submitted
- 2 Jun 2021
- Last updated
- 21 Aug 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterizing the Upper Airway Manifestations in Primary Ciliary Dyskinesia and Primary Immunodeficiencies
- ClinicalTrials.gov ID
- NCT04919018
- Acronym / sponsor ID
- 20-1170
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 159 participants (actual)
- Lead sponsor
- University of North Carolina, Chapel HillUniversity, hospital or other
- Collaborators
- Washington University School of Medicine, The Hospital for Sick Children, McGill University, Children's Hospital Medical Center, Cincinnati, National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- 9 Jun 2021 (actual)
- Primary completion
- 23 Jul 2025 (actual)
- Study completion
- 23 Jul 2025 (actual)
- First posted
- 9 Jun 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | – | –Subjects with a confirmed diagnosis of PCD |
| Primary Immune Deficiency (PID) | – | –Subjects with a confirmed diagnosis of PID |
Who may qualify
- Ages
- 5 to 45 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Subjects with definite primary ciliary dyskinesia and primary immune deficiencies
Key inclusion criteria (22 listed)
- Ages ≥ 5-45 years.
- Informed consent, and assent from minors.
- Clinical features consistent with PCD plus
- At least one diagnostic test consistent with PCD:
- A clinical diagnosis of PID known to be associated with an increased risk of infections, as defined by the European Society of Immunodeficiencies (ESID) registry, AND a genetic confirmation with a known or likely pathogenic variant.
Key exclusion criteria (12 listed)
- Inability to undergo study procedures
- Reported increased respiratory symptoms within 3 weeks before the scheduled visit
- Congenital craniofacial abnormalities (cleft lip and/or palate, hemifacial microsomia) that may result in otologic or sinus disease
- Congenital hearing loss
- Diagnosis of Trisomy 21, Kabuki syndrome, DiGeorge anomaly or syndrome, 22q11 deletion syndrome, or CHARGE syndrome
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Mean Sinonasal Quality of Life SNOT-22 Score in PCD and PID
Time frame: During a single 6-hour visit
SNOT-22 is a subject-completed questionnaire that consists of 22 questions. Each item is rated as follows: 0=no problem, 1=very mild problem, 2=mild or slight problem, 3=moderate problem, 4=severe problem, 5=problem as bad as it can be. The total score can range from 0-110, 0 being the best and 110 being the worst.
Mean Quality of Life SN-5 Score in PCD and PID
Time frame: During a single 6-hour visit
The Sinus and nasal quality of life survey questionnaire (SN-5) is a quality of life assessment completed by a subject/parent consisting of 5 specific symptoms-related questions (answered on a 7-point Likert scale on the frequency of symptoms, 1=none of the time, 7=all of the time), and 1 general overall quality of life question (answered on a visual analog scale from 0 to 10, worst to best).
Mean Score of Burghart Sniffin' Sticks Threshold Test in PCD and PID
Time frame: During a single 6-hour visit
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the the threshold test, subjects will identify an odor at varying concentrations (Continuous Variable Range: 1-16, 1 being the lowest score and 16 being the highest score).
Mean Score of Burghart Sniffin' Sticks Discrimination Test in PCD and PID
Time frame: During a single 6-hour visit
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the discrimination test, subjects will select which odor smells different from several options (Continuous Variable Range: 0-16, 0 being the lowest score and 16 being the highest score).
Mean Score of Burghart Sniffin' Sticks Identification Test in PCD and PID
Time frame: During a single 6-hour visit
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the identification test, subjects ages 12-45 will identify an odor from four choices (Continuous Variable Range: 0-16, 0 being the lowest score and 16 being the highest score).
Mean Score of Burghart Sniffin' Kids Identification Test in PCD and PID
Time frame: During a single 6-hour visit
Olfactory function will be evaluated through the Burghart Sniffin' Sticks test which is a validated psychophysical testing method. Sniffin' Sticks test is based on pen-like odor dispensing devices that will be presented to participants. In the identification test, subjects ages 5-11 will identify an odor from four choices (Continuous Variable Range: 0-14, 0 being the lowest score and 14 being the highest score).
Mean Pure Tone Average Air Conduction in PCD and PID
Time frame: During a single 6-hour visit
Audiometry completed by the research team to determine pure tone average in decibels (dB) (Continuous Variable Range: 0-110 dB)
Mean Pure Tone Average Bone Conduction in PCD and PID
Time frame: During a single 6-hour visit
Audiometry completed by the research team to determine pure tone average in decibels (dB) (Continuous Variable Range: 0-110 dB)
Characterization of Tympanograms in PCD and PID
Time frame: During a single 6-hour visit
Research team will conduct tympanometry and assign one of four types (Type A, Type B, Typc C or large volume) to the completed tympanogram
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Aug 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Stephanie Davis, MD principal investigator
University of North Carolina, Chapel Hill
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Ciliary Dyskinesia and Kartagener Syndrome, run by University of North Carolina, Chapel Hill at 4 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 22 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 21 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mean Sinonasal Quality of Life SNOT-22 Score in PCD and PID (time frame: During a single 6-hour visit). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Aug 2025.