Primary Ciliary DyskinesiaNCT05685186
A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults
An observational study of Primary Ciliary Dyskinesia, run by ReCode Therapeutics at 1 site in United States.
Trial summary
The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Primary Ciliary Dyskinesia
- What is being tested?
- Spirometry, Multiple Breath Washout (MBW) and Mucociliary Clearance (MCC)
- How many people
- 31 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Mar 2023to 30 Jun 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 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: Individuals with a diagnosis of Primary Ciliary Dyskinesia and healthy volunteers
Who may be able to join
- PCD diagnosis with confirmation of 2 identified pathogenic genetic variants within 1 of the following ultrastructure variants:
- DNAI1 ODA defect
- Other ODA defect
- IDA - MTD defect
- RS defect
- Informed consent
Who cannot join
- Are a current smoker (e-cigarette, tobacco, or marijuana)
- Are a former smoker who discontinued smoking <1 year prior to enrollment or has a cumulative 1+ pack-year smoking history
- Have a recent stable forced expiratory volume in one second (FEV1) <35% predicted
- Have contraindications for MRI studies (implanted devices/materials; inability to tolerate; claustrophobia or severe anxiety that would preclude MRI/imaging)
- Have had a significant clinical radiation exposure (as determined by the investigator) within the past 6 months. Potential participants who have had a chest CT within the past 6 months may be eligible to be enrolled and their clinical CT will be utilized as the baseline for this study
- Are pregnant or breastfeeding
- Have any comorbidities likely to impact lung function (e.g., complex congenital heart disease, severe scoliosis, diseases involving immune dysregulation, lung transplantation, lung lobectomy, end-stage renal disease, or poor overall health status).
Trial locations and contacts
1 site in 1 country.
United States1 site
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
About this study
The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.
Read the detailed description
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by progressive upper and lower respiratory tract infections and inflammation caused by impaired mucociliary clearance (MCC). While longitudinal studies of children and adolescents with PCD have informed the early natural history of lung disease, there remains a knowledge gap in disease characteristics and progression in adults. There are no prospective published data evaluating the natural history of airway morbidity and mortality in adults, and little is known about the optimal clinical measures and biomarkers to evaluate disease progression. Cohort studies are needed to understand clinical measures and biomarkers across the lifespan of people with PCD, distinguish disease subtypes, and define endpoint variability. Natural history studies are critical for designing future clinical trials. New therapies have lagged in part due to lack of clear clinical biomarkers for adults.
The overarching goal is to characterize clinical measures and biomarkers of airway disease in adults with PCD. In addition, a subset of these clinical measures and biomarkers will be collected in a group of healthy volunteers (HV) to establish normative values.
- Conditions
- Primary Ciliary Dyskinesia
- Being tested
- Spirometry, Multiple Breath Washout (MBW), Mucociliary Clearance (MCC), CT of the chest, MRI of the chest
- Keywords
- PCD, 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.
SpirometryDiagnostic test
To assess lung function
Multiple Breath Washout (MBW)Diagnostic test
To measure Lung Clearance Index (LCI)
Mucociliary Clearance (MCC)Diagnostic test
To measure lung clearance after the inhalation of radiolabeled particles
CT of the chestDiagnostic test
Low radiation to assess structural lung disease
MRI of the chestDiagnostic test
To assess lung function and structural lung disease
| Study group | Role | What they receive |
|---|---|---|
| PCD Cohort | The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants:
* DNAI1 ODA defect
* Other ODA defect
* IDA-MTD defect, CCDC39 or CCDC40
* Radial Spoke defect Receives: Diagnostic Test: Spirometry; Diagnostic Test: Multiple Breath Washout (MBW); Diagnostic Test: Mucociliary Clearance (MCC); Diagnostic Test: CT of the chest; Diagnostic Test: MRI of the chest | |
| Healthy Volunteer Cohort | The healthy volunteer cohort will include health individuals. Receives: Diagnostic Test: Spirometry; Diagnostic Test: Mucociliary Clearance (MCC); Diagnostic Test: MRI of the chest |
What is being measured
The primary outcome is the main question the study is designed to answer.
Descriptive Analysis
Descriptive statistical methods will be applied to analyze: lung function, measure % predicated (pp) FEV1. Absolute Change From Baseline in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1) Through Week 26
Measured: From Baseline Through Week 26
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2023
- Study start8 Mar 2023
- Primary completion28 Apr 2025
- Study completion30 Jun 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.
- 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
- 31 participants (actual)
Sponsor and investigators
- Lead sponsor
- ReCode Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- University of North Carolina, Chapel Hill
- Responsible party
- Sponsor
- Investigators
- Priya Ryali, Study director, ReCode TherapeuticsStephanie Davis, Principal investigator, UNC Chapel Hill
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05685186
- Sponsor's protocol ID
- RCTAX001
- Status last verified
- Apr 2026
- First submitted
- 19 Dec 2022
- Last updated
- 4 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults
- ClinicalTrials.gov ID
- NCT05685186
- Acronym / sponsor ID
- RCTAX001
- Conditions
- Primary Ciliary Dyskinesia
- Keywords
- PCD, Primary Ciliary Dyskinesia, Kartagener Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 31 participants (actual)
- Lead sponsor
- ReCode TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- University of North Carolina, Chapel Hill
- Study start
- 8 Mar 2023 (actual)
- Primary completion
- 28 Apr 2025 (actual)
- Study completion
- 30 Jun 2025 (actual)
- First posted
- 13 Jan 2023 (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 goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.
Detailed description
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by progressive upper and lower respiratory tract infections and inflammation caused by impaired mucociliary clearance (MCC). While longitudinal studies of children and adolescents with PCD have informed the early natural history of lung disease, there remains a knowledge gap in disease characteristics and progression in adults. There are no prospective published data evaluating the natural history of airway morbidity and mortality in adults, and little is known about the optimal clinical measures and biomarkers to evaluate disease progression. Cohort studies are needed to understand clinical measures and biomarkers across the lifespan of people with PCD, distinguish disease subtypes, and define endpoint variability. Natural history studies are critical for designing future clinical trials. New therapies have lagged in part due to lack of clear clinical biomarkers for adults.
The overarching goal is to characterize clinical measures and biomarkers of airway disease in adults with PCD. In addition, a subset of these clinical measures and biomarkers will be collected in a group of healthy volunteers (HV) to establish normative values.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| PCD Cohort | – | Diagnostic Test: Spirometry, Diagnostic Test: Multiple Breath Washout (MBW), Diagnostic Test: Mucociliary Clearance (MCC), Diagnostic Test: CT of the chest, Diagnostic Test: MRI of the chestThe PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants: * DNAI1 ODA defect * Other ODA defect * IDA-MTD defect, CCDC39 or CCDC40 * Radial Spoke defect |
| Healthy Volunteer Cohort | – | Diagnostic Test: Spirometry, Diagnostic Test: Mucociliary Clearance (MCC), Diagnostic Test: MRI of the chestThe healthy volunteer cohort will include health individuals. |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Individuals with a diagnosis of Primary Ciliary Dyskinesia and healthy volunteers
Key inclusion criteria (6 listed)
- PCD diagnosis with confirmation of 2 identified pathogenic genetic variants within 1 of the following ultrastructure variants:
- DNAI1 ODA defect
- Other ODA defect
- IDA - MTD defect
- RS defect
Key exclusion criteria (7 listed)
- Are a current smoker (e-cigarette, tobacco, or marijuana)
- Are a former smoker who discontinued smoking <1 year prior to enrollment or has a cumulative 1+ pack-year smoking history
- Have a recent stable forced expiratory volume in one second (FEV1) <35% predicted
- Have contraindications for MRI studies (implanted devices/materials; inability to tolerate; claustrophobia or severe anxiety that would preclude MRI/imaging)
- Have had a significant clinical radiation exposure (as determined by the investigator) within the past 6 months. Potential participants who have had a chest CT within the past 6 months may be eligible to be enrolled and their clinical CT will be utilized as the baseline for this study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SpirometryTo assess lung function | Diagnostic test | Healthy Volunteer Cohort, PCD Cohort |
| Multiple Breath Washout (MBW)To measure Lung Clearance Index (LCI) | Diagnostic test | PCD Cohort |
| Mucociliary Clearance (MCC)To measure lung clearance after the inhalation of radiolabeled particles | Diagnostic test | Healthy Volunteer Cohort, PCD Cohort |
| CT of the chestLow radiation to assess structural lung disease | Diagnostic test | PCD Cohort |
| MRI of the chestTo assess lung function and structural lung disease | Diagnostic test | Healthy Volunteer Cohort, PCD Cohort |
Primary outcome
Descriptive Analysis
Time frame: From Baseline Through Week 26
Descriptive statistical methods will be applied to analyze: lung function, measure % predicated (pp) FEV1. Absolute Change From Baseline in Percent Predicted Forced Expiratory Volume in 1 Second (ppFEV1) Through Week 26
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 4 May 2026.
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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.
Priya Ryali study director
ReCode Therapeutics
Stephanie Davis principal investigator
UNC Chapel Hill
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Ciliary Dyskinesia, run by ReCode Therapeutics at 1 site in United States.
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 6 inclusion and 7 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 4 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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?
Descriptive Analysis (time frame: From Baseline Through Week 26). 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 4 May 2026.