Primary Ciliary DyskinesiaNCT05161858
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia
An observational study of Primary Ciliary Dyskinesia and Kartagener Syndrome, run by University of North Carolina, Chapel Hill at 7 sites in 2 countries.
Trial summary
The overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults with primary ciliary dyskinesia (PCD). Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- How many people
- 105 participants
- Where
- 7 sitesin 2 countries
- Study dates
- 29 Mar 2022to 30 Sep 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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects diagnosed with PCD
Who may be able to join
- Diagnosis of PCD
- Clinical features consistent with PCD PLUS
- At least 1 diagnostic test consistent with PCD:
- Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis; ii) Ciliary ultrastructural defect by transmission electron microscopy known to be disease-causing, including outer dynein arm defects, outer dynein arm plus inner dynein arm (IDA) defects, IDA defects with microtubular disorganization and absent central pair
- Age ≥ 6 years
- At least one course of antibiotics (oral or IV) in the prior year prescribed to treat new or increased respiratory symptoms
- Smart phone and/or internet access available in home
- Informed consent provided by participant or parent/guardian, with assent provided as applicable
Who cannot join
- Acute course of antibiotics for respiratory symptoms completed <14 days prior to enrollment or Visit 1 (evaluated at enrollment and Visit 1; visit may be rescheduled >14 days after completion of antibiotics)
- Developmental or cognitive disability that would impair ability to complete PRO instruments or perform spirometry
- Congenital heart disease OTHER THAN repaired or resolved atrial septal defect (ASD) or ventricular septal defect (VSD)
- Asplenia or functional asplenia
- Co-existing non-pulmonary disease that, in the opinion of the investigator, could have significant impact on lung function or health-related quality of life (e.g., severe scoliosis) or overall health status (e.g., cancer, severe renal disease)
- Listed for or post-lung transplantation
Trial locations and contacts
7 sites in 2 countries.
7 sites in 2 countries
United States5 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
Stanford University
Palo Alto, California, 94304
Seattle Children's Hospital
Seattle, Washington, 98105
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
The overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults with primary ciliary dyskinesia (PCD).
Read the detailed description
This is a longitudinal, prospective multicenter study to characterize acute respiratory illnesses (ARIs) and response to treatment in PCD patients. Participants (N=125) will be children age ≥6 years and adults with definite PCD. Participants will be enrolled for approximately 13 months, during which they will attend at least two study visits and perform home monitoring. Participants will be encouraged to attend study visits in-person but will have the option for virtual telehealth visits to ensure compliance with local guidelines and participant safety. Endpoints will be assessed during both well state (i.e., patients typical state of health) and sick state (i.e., during each self-reported period of acute respiratory illness). Informed consent will be obtained, after which the participant will be receive a home spirometer and instructed in its use This design allows for a training period in order to become proficient with home spirometry, with the first study visit occurring 1 month ± 2 weeks after enrollment and the second 12 (±1) months after visit 1 (coordinated with routine clinic visits as possible). Participants will also participate in a set of two optional ARI visits during one ARI, scheduled between 3-5 business days of study team notification by the participant of the new ARI and 2-4 weeks later.
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- Medical subject headings
- Ciliary Motility Disorders, Kartagener Syndrome
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) - Well State | Subjects with confirmed PCD in Well State | |
| Primary Ciliary Dyskinesia (PCD) - Sick State | Subjects with confirmed PCD in Sick State |
What is being measured
The primary outcome is the main question the study is designed to answer.
Mean FEV1 Percent Predicted Values in Well State and Sick State
Forced expired volume in 1 second (FEV1) will be assessed by percentage of the predicted value (0-100%).
Measured: 12 months
Mean Primary Ciliary Dyskinesia-Quality of Life Score in Well State and Sick State
Domains (scales) include physical, emotional, social, school and role functioning; treatment burden; ears and hearing; upper and lower respiratory symptoms; and vitality. The recall period is one week and responses are rated on a 4-point Likert scale.
Measured: 12 months
Mean PCD-Respiratory Symptom Diary Score Well State and Sick State
The PCD-RSD contains 17 items, 10 on symptoms and 7 on social/emotional impact. The recall period is 24 hours and 15 questions are rated on a 5-point Likert Scale, while two questions are binary (Range: 0-62, 0 being the best and 62 being the worst).
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2021
- Study start29 Mar 2022
- Primary completion30 Sep 2025
- Study completion30 Sep 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
- 105 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, Children's Hospital Colorado, Stanford University, Seattle Children's Hospital, The Hospital for Sick Children, McGill University, Children's Hospital Medical Center, Cincinnati
- Responsible party
- Sponsor
- Investigators
- Margaret Rosenfeld, MD, Principal investigator, Seattle Children's HospitalScott Sagel, MD, PhD, Principal investigator, Children's Hospital Colorado
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05161858
- Sponsor's protocol ID
- 20-0805
- Status last verified
- Dec 2025
- First submitted
- 29 Nov 2021
- Last updated
- 10 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: This project is part of the Rare Diseases Clinical Research Network (RDCRN). As such, this project is required to share data with the RDCRN Data Management and Coordinating Center (DMCC) for the purpose of establishing a data repository under National Institutes of Health (NIH) oversight.
Study at a glance
From the registry record, last updated by the sponsor on 10 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary Dyskinesia
- ClinicalTrials.gov ID
- NCT05161858
- Acronym / sponsor ID
- 20-0805
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 105 participants (actual)
- Lead sponsor
- University of North Carolina, Chapel HillUniversity, hospital or other
- Collaborators
- Washington University School of Medicine, Children's Hospital Colorado, Stanford University, Seattle Children's Hospital, The Hospital for Sick Children, McGill University, Children's Hospital Medical Center, Cincinnati
- Study start
- 29 Mar 2022 (actual)
- Primary completion
- 30 Sep 2025 (actual)
- Study completion
- 30 Sep 2025 (actual)
- First posted
- 17 Dec 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.
The overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults with primary ciliary dyskinesia (PCD).
Detailed description
This is a longitudinal, prospective multicenter study to characterize acute respiratory illnesses (ARIs) and response to treatment in PCD patients. Participants (N=125) will be children age ≥6 years and adults with definite PCD. Participants will be enrolled for approximately 13 months, during which they will attend at least two study visits and perform home monitoring. Participants will be encouraged to attend study visits in-person but will have the option for virtual telehealth visits to ensure compliance with local guidelines and participant safety. Endpoints will be assessed during both well state (i.e., patients typical state of health) and sick state (i.e., during each self-reported period of acute respiratory illness). Informed consent will be obtained, after which the participant will be receive a home spirometer and instructed in its use This design allows for a training period in order to become proficient with home spirometry, with the first study visit occurring 1 month ± 2 weeks after enrollment and the second 12 (±1) months after visit 1 (coordinated with routine clinic visits as possible). Participants will also participate in a set of two optional ARI visits during one ARI, scheduled between 3-5 business days of study team notification by the participant of the new ARI and 2-4 weeks later.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) - Well State | – | –Subjects with confirmed PCD in Well State |
| Primary Ciliary Dyskinesia (PCD) - Sick State | – | –Subjects with confirmed PCD in Sick State |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects diagnosed with PCD
Key inclusion criteria (8 listed)
- Diagnosis of PCD
- Age ≥ 6 years
- At least one course of antibiotics (oral or IV) in the prior year prescribed to treat new or increased respiratory symptoms
- Smart phone and/or internet access available in home
- Informed consent provided by participant or parent/guardian, with assent provided as applicable
Key exclusion criteria (6 listed)
- Acute course of antibiotics for respiratory symptoms completed <14 days prior to enrollment or Visit 1 (evaluated at enrollment and Visit 1; visit may be rescheduled >14 days after completion of antibiotics)
- Developmental or cognitive disability that would impair ability to complete PRO instruments or perform spirometry
- Congenital heart disease OTHER THAN repaired or resolved atrial septal defect (ASD) or ventricular septal defect (VSD)
- Asplenia or functional asplenia
- Co-existing non-pulmonary disease that, in the opinion of the investigator, could have significant impact on lung function or health-related quality of life (e.g., severe scoliosis) or overall health status (e.g., cancer, severe renal disease)
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 FEV1 Percent Predicted Values in Well State and Sick State
Time frame: 12 months
Forced expired volume in 1 second (FEV1) will be assessed by percentage of the predicted value (0-100%).
Mean Primary Ciliary Dyskinesia-Quality of Life Score in Well State and Sick State
Time frame: 12 months
Domains (scales) include physical, emotional, social, school and role functioning; treatment burden; ears and hearing; upper and lower respiratory symptoms; and vitality. The recall period is one week and responses are rated on a 4-point Likert scale.
Mean PCD-Respiratory Symptom Diary Score Well State and Sick State
Time frame: 12 months
The PCD-RSD contains 17 items, 10 on symptoms and 7 on social/emotional impact. The recall period is 24 hours and 15 questions are rated on a 5-point Likert Scale, while two questions are binary (Range: 0-62, 0 being the best and 62 being the worst).
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 10 Dec 2025.
- Individual participant dataSharing planned: Yes. This project is part of the Rare Diseases Clinical Research Network (RDCRN). As such, this project is required to share data with the RDCRN Data Management and Coordinating Center (DMCC) for the purpose of establishing a data repository under National Institutes of Health (NIH) oversight.
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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.
Margaret Rosenfeld, MD principal investigator
Seattle Children's Hospital
Scott Sagel, MD, PhD principal investigator
Children's Hospital Colorado
7 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 7 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 8 inclusion and 6 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 10 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 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 FEV1 Percent Predicted Values in Well State and Sick State (time frame: 12 months). The study lists 3 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 10 Dec 2025.