Primary Ciliary DyskinesiaEPIC-PCDNCT04611516
The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD)
An observational study of Primary Ciliary Dyskinesia and Kartagener Syndrome, run by University of Bern at 1 site in Switzerland.
Trial summary
The Ear-Nose-Throat (ENT) Prospective International Cohort of patients with Primary Ciliary Dyskinesia (EPIC-PCD) is a prospective observational clinical cohort study, set up as a multinational multi-centre study. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- How many people
- 1,000 participants
- Where
- 1 siteSwitzerland
- Study dates
- 2 Mar 2020to Dec 2040
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients of all ages diagnosed with PCD, followed in a collaborating PCD centre
Who may be able to join
- Diagnosis of PCD (clinical and test certified)
- Patient must undergo an ENT examination minimum once a year as part of their clinical follow-up
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Switzerland1 site, 1 recruiting
- Recruiting
University of Bern
Bern
Myrofora Goutaki, MD, +41316845973, myrofora.goutaki@.unibe.ch
About this study
The Ear-Nose-Throat (ENT) Prospective International Cohort of patients with Primary Ciliary Dyskinesia (EPIC-PCD) is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients keep being managed according to local procedures and guidelines.
Read the detailed description
The EPICD-PCD is hosted at the Institute of Social and Preventive Medicine (ISPM) at the University of Bern, Switzerland. Research is performed in close collaboration with all data contributors. This study aims to characterise ENT disease in PCD patients and its association with lower respiratory disease, and to identify determinants of its prognosis.
The investigators aim to:
- Assess the prevalence and severity of sinonasal and otologic symptoms and the frequency and range of signs and physiological findings assessed during standardised ENT physical examination, and describe differences by age;
- Study the association of sinonasal and otologic disease with lower respiratory disease in PCD patients;
- Identify determinants of disease course and prognosis of sinonasal and otologic disease in PCD patients
- Study management practices and identify determinants that inform them.
Study design:
The EPIC-PCD is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients will keep being managed according to local procedures and guidelines.
Patients with PCD are followed regularly at each centre, at 3-month to 6-month intervals. Each patient undergoes a detailed ENT sinonasal and otologic examination by ENT specialists, at minimum once a year, during a programmed follow-up visit. Additional ENT examinations are performed if indicated during in-between follow-up visits. Patients will not be subjected to additional invasive measurements solely for the purposes of the study.
What information is collected:
The study collect clinical data from patients assessment at regular consultations at the outpatient clinics.
For the collection of clinical data, participating centres will use FOLLOW-PCD, a disease-specific form for standardised prospective data collection during routine clinical follow-up of PCD patients.
Study database:
The EPIC-PCD database is web-based, using the Research Electronic Data Capture (REDCap) platform developed at Vanderbilt University. REDCap is widely used in academic research and allows data entry and extraction in various formats.
How to participate:
Centres that wish to participate to the project and contribute data can contact the EPIC-PCD managing centre to sign a data delivery agreement. They then will receive a password to access the online software REDCap and they will be able to enter their data directly. They can also upload follow-up data or add additional patients at a later time point.
Funding:
The setting up of the EPIC-PCD (salaries, consumables and equipment) was funded by the Swiss National Science Foundation. Data collection and management at each site was funded according to local arrangements. Most participating researchers and data contributors participate in the European Respiratory Society Clinical Research collaboration "Better Evidence to Advance Therapeutic options for PCD" (BEAT-PCD) (https://beat-pcd.squarespace.com/). Infrastructure is provided for free by the University of Bern, where the data are pooled and stored.
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- Medical subject headings
- Ciliary Motility Disorders, Kartagener Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Sinonasal symptoms and signs
Prevalence of reported clinical symptoms at different age groups, including rhinitis, sinusitis, snoring
Measured: at baseline
Course of sinonasal symptoms and signs (year 1)
Change from baseline prevalence of reported clinical symptoms at different age groups, including rhinitis, sinusitis, snoring, at 12 months
Measured: at 12 months from recruitment
Course of sinonasal symptoms and signs (year 2)
Change from baseline prevalence of reported clinical symptoms at different age groups, including rhinitis, sinusitis, snoring, at 24 months
Measured: at 24 months from recruitment
Otological symptoms and signs
Prevalence of reported clinical symptoms at different age groups, including ear pain, hearing problems, ear discharge
Measured: at baseline
Course of otological symptoms and signs (year 1)
Change from baseline prevalence of reported clinical symptoms at different age groups, including ear pain, hearing problems, ear discharge, at 12 months
Measured: at 12 months from recruitment
Course of otological symptoms and signs (year 2)
Change from baseline prevalence of reported clinical symptoms at different age groups, including ear pain, hearing problems, ear discharge, at 24 months
Measured: at 24 months from recruitment
Nasal endoscopy (description of nasal mucosa)
Description of nasal mucosa as seen via nasal endoscopy examination
Measured: at baseline
Nasal endoscopy (changes of nasal mucosa at year 1)
Changes in nasal mucosa from baseline as seen via nasal endoscopy examination at 12 months
Measured: at 12 months from recruitment
Nasal endoscopy (changes of nasal mucosa at year 2)
Changes in nasal mucosa from baseline as seen via nasal endoscopy examination at 24 months
Measured: at 24 months from recruitment
Nasal endoscopy (nasal polyps)
Prevalence of nasal polyps at baseline
Measured: at baseline
Nasal endoscopy (nasal polyps at year 1)
Changes in prevalence of nasal polyps from baseline to 12 months
Measured: at 12 months from recruitment
Nasal endoscopy (nasal polyps at year 2)
Changes in prevalence of nasal polyps from baseline to 24 months
Measured: at 24 months from recruitment
Sinonasal examination (Lidholdt score)
Lidholdt score at baseline
Measured: at baseline
Sinonasal examination (Lidholdt score at year 1)
Changes in Lidholdt score from baseline to 12 months
Measured: at 12 months from recruitment
Sinonasal examination (Lidholdt score at year 2)
Changes in Lidholdt score from baseline to 24 months
Measured: at 24 months from recruitment
Ear examination (ear discharge)
Prevalence of ear discharge at baseline
Measured: at baseline
Ear examination (ear discharge at year 1)
Changes in prevalence of ear discharge from baseline to 12 months
Measured: at 12 months from recruitment
Ear examination (ear discharge at year 2)
Changes in prevalence of ear discharge from baseline to 24 months
Measured: at 24 months from recruitment
Otoscopy (description of the tympanic membrane)
Description of tympanic membrane as seen via otoscopy examination
Measured: at baseline
Otoscopy (description of the tympanic membrane at year 1)
Changes in the tympanic membrane from baseline to 12 months as seen via otoscopy examination
Measured: at 12 months from recruitment
Otoscopy (description of the tympanic membrane at year 2)
Changes in the tympanic membrane from baseline to 24 months as seen via otoscopy examination
Measured: at 24 months from recruitment
Tympanometry
Results of tympanometry (tympanogram type for both ears) at baseline
Measured: at baseline
Tympanometry (at year 1)
Changes in tympanogram (for both ears) from baseline to 12 months
Measured: at 12 months from recruitment
Tympanometry (at year 2)
Changes in tympanogram (for both ears) from baseline to 24 months
Measured: at 24 months from recruitment
Audiometry
Results of audiometry: type of audiometry and results based on WHO hearing loss grades (for both ears)
Measured: at baseline
Audiometry (at year 1)
Changes in audiometry results from baseline to 12 months
Measured: at 12 months from recruitment
Audiometry (at year 2)
Changes in audiometry results from baseline to 24 months
Measured: at 24 months from recruitment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Nov 2020
- Study start2 Mar 2020
- Primary completionDec 2030 (estimated)
- Study completionDec 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Primary Ciliary DyskinesiaStudies of the same condition, open and under way.
- More trials run by University of BernThe 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
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Bern
- Sponsor type
- University, hospital or other
- Collaborators
- Bicetre Hospital, Centre Hospitalier Intercommunal Creteil, University Hospital Southampton NHS Foundation Trust, Universitaire Ziekenhuizen KU Leuven, Amsterdam UMC, location VUmc, University of Cyprus, Hacettepe University, Marmara University, Hospital Universitario La Fe, Insel Gruppe AG, University Hospital Bern
- Responsible party
- Sponsor
- Investigators
- Myrofora Goutaki, MD-PhD, Principal investigator, University of Bern
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04611516
- Sponsor's protocol ID
- EPIC-PCD
- Acronym
- EPIC-PCD
- Status last verified
- Nov 2025
- First submitted
- 8 Oct 2020
- Last updated
- 2 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Not all participating centres have ethical approval to share IPD to external researchers. Researchers wanting to use the dataset can propose a research topic and draft a concept sheet describing the planned analyses and publication. All concept sheets have to be approved by all participating centres contributing data to the proposed analysis under question. After the participating centres agree to contribute their data and sign a publication agreement, the EPIC-PCD managing centre (University of Bern) will prepare a partial dataset for the proposed analysis and will work closely with the lead researchers offering methodological input and support. In case additional data is collected to complete the partial dataset for a specific project, this will be added to the EPIC-PCD dataset to enrich it after each project.
Publications
Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Bequignon E, Boon M, Burgess A, Coste A, Emiralioglu N, Erdem E, Haarman EG, Harris A, Hool SL, Karadag B, Kim S, Latzin P, Lorent N, Ozcelik U, Reula A, Roehmel J, van Gogh C, Yiallouros P, Zappe SM; EPIC-PCD team; Papon JF. Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD). BMJ Open. 2021 Oct 11;11(10):e051433. doi: 10.1136/bmjopen-2021-051433.
PubMed 34635525
Study at a glance
From the registry record, last updated by the sponsor on 2 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD)
- ClinicalTrials.gov ID
- NCT04611516
- Acronym / sponsor ID
- EPIC-PCD / EPIC-PCD
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- University of BernUniversity, hospital or other
- Collaborators
- Bicetre Hospital, Centre Hospitalier Intercommunal Creteil, University Hospital Southampton NHS Foundation Trust, Universitaire Ziekenhuizen KU Leuven, Amsterdam UMC, location VUmc, University of Cyprus, Hacettepe University, Marmara University, Hospital Universitario La Fe, Insel Gruppe AG, University Hospital Bern
- Study start
- 2 Mar 2020 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2040 (estimated)
- First posted
- 2 Nov 2020 (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 Ear-Nose-Throat (ENT) Prospective International Cohort of patients with Primary Ciliary Dyskinesia (EPIC-PCD) is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients keep being managed according to local procedures and guidelines.
Detailed description
The EPICD-PCD is hosted at the Institute of Social and Preventive Medicine (ISPM) at the University of Bern, Switzerland. Research is performed in close collaboration with all data contributors. This study aims to characterise ENT disease in PCD patients and its association with lower respiratory disease, and to identify determinants of its prognosis.
The investigators aim to:
- Assess the prevalence and severity of sinonasal and otologic symptoms and the frequency and range of signs and physiological findings assessed during standardised ENT physical examination, and describe differences by age;
- Study the association of sinonasal and otologic disease with lower respiratory disease in PCD patients;
- Identify determinants of disease course and prognosis of sinonasal and otologic disease in PCD patients
- Study management practices and identify determinants that inform them.
Study design:
The EPIC-PCD is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients will keep being managed according to local procedures and guidelines.
Patients with PCD are followed regularly at each centre, at 3-month to 6-month intervals. Each patient undergoes a detailed ENT sinonasal and otologic examination by ENT specialists, at minimum once a year, during a programmed follow-up visit. Additional ENT examinations are performed if indicated during in-between follow-up visits. Patients will not be subjected to additional invasive measurements solely for the purposes of the study.
What information is collected:
The study collect clinical data from patients assessment at regular consultations at the outpatient clinics.
For the collection of clinical data, participating centres will use FOLLOW-PCD, a disease-specific form for standardised prospective data collection during routine clinical follow-up of PCD patients.
Study database:
The EPIC-PCD database is web-based, using the Research Electronic Data Capture (REDCap) platform developed at Vanderbilt University. REDCap is widely used in academic research and allows data entry and extraction in various formats.
How to participate:
Centres that wish to participate to the project and contribute data can contact the EPIC-PCD managing centre to sign a data delivery agreement. They then will receive a password to access the online software REDCap and they will be able to enter their data directly. They can also upload follow-up data or add additional patients at a later time point.
Funding:
The setting up of the EPIC-PCD (salaries, consumables and equipment) was funded by the Swiss National Science Foundation. Data collection and management at each site was funded according to local arrangements. Most participating researchers and data contributors participate in the European Respiratory Society Clinical Research collaboration "Better Evidence to Advance Therapeutic options for PCD" (BEAT-PCD) (https://beat-pcd.squarespace.com/). Infrastructure is provided for free by the University of Bern, where the data are pooled and stored.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients of all ages diagnosed with PCD, followed in a collaborating PCD centre
Key inclusion criteria (2 listed)
- Diagnosis of PCD (clinical and test certified)
- Patient must undergo an ENT examination minimum once a year as part of their clinical follow-up
Key exclusion criteria (1 listed)
- None
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
Sinonasal symptoms and signs
Time frame: at baseline
Prevalence of reported clinical symptoms at different age groups, including rhinitis, sinusitis, snoring
Course of sinonasal symptoms and signs (year 1)
Time frame: at 12 months from recruitment
Change from baseline prevalence of reported clinical symptoms at different age groups, including rhinitis, sinusitis, snoring, at 12 months
Course of sinonasal symptoms and signs (year 2)
Time frame: at 24 months from recruitment
Change from baseline prevalence of reported clinical symptoms at different age groups, including rhinitis, sinusitis, snoring, at 24 months
Otological symptoms and signs
Time frame: at baseline
Prevalence of reported clinical symptoms at different age groups, including ear pain, hearing problems, ear discharge
Course of otological symptoms and signs (year 1)
Time frame: at 12 months from recruitment
Change from baseline prevalence of reported clinical symptoms at different age groups, including ear pain, hearing problems, ear discharge, at 12 months
Course of otological symptoms and signs (year 2)
Time frame: at 24 months from recruitment
Change from baseline prevalence of reported clinical symptoms at different age groups, including ear pain, hearing problems, ear discharge, at 24 months
Nasal endoscopy (description of nasal mucosa)
Time frame: at baseline
Description of nasal mucosa as seen via nasal endoscopy examination
Nasal endoscopy (changes of nasal mucosa at year 1)
Time frame: at 12 months from recruitment
Changes in nasal mucosa from baseline as seen via nasal endoscopy examination at 12 months
Nasal endoscopy (changes of nasal mucosa at year 2)
Time frame: at 24 months from recruitment
Changes in nasal mucosa from baseline as seen via nasal endoscopy examination at 24 months
Nasal endoscopy (nasal polyps)
Time frame: at baseline
Prevalence of nasal polyps at baseline
Nasal endoscopy (nasal polyps at year 1)
Time frame: at 12 months from recruitment
Changes in prevalence of nasal polyps from baseline to 12 months
Nasal endoscopy (nasal polyps at year 2)
Time frame: at 24 months from recruitment
Changes in prevalence of nasal polyps from baseline to 24 months
Sinonasal examination (Lidholdt score)
Time frame: at baseline
Lidholdt score at baseline
Sinonasal examination (Lidholdt score at year 1)
Time frame: at 12 months from recruitment
Changes in Lidholdt score from baseline to 12 months
Sinonasal examination (Lidholdt score at year 2)
Time frame: at 24 months from recruitment
Changes in Lidholdt score from baseline to 24 months
Ear examination (ear discharge)
Time frame: at baseline
Prevalence of ear discharge at baseline
Ear examination (ear discharge at year 1)
Time frame: at 12 months from recruitment
Changes in prevalence of ear discharge from baseline to 12 months
Ear examination (ear discharge at year 2)
Time frame: at 24 months from recruitment
Changes in prevalence of ear discharge from baseline to 24 months
Otoscopy (description of the tympanic membrane)
Time frame: at baseline
Description of tympanic membrane as seen via otoscopy examination
Otoscopy (description of the tympanic membrane at year 1)
Time frame: at 12 months from recruitment
Changes in the tympanic membrane from baseline to 12 months as seen via otoscopy examination
Otoscopy (description of the tympanic membrane at year 2)
Time frame: at 24 months from recruitment
Changes in the tympanic membrane from baseline to 24 months as seen via otoscopy examination
Tympanometry
Time frame: at baseline
Results of tympanometry (tympanogram type for both ears) at baseline
Tympanometry (at year 1)
Time frame: at 12 months from recruitment
Changes in tympanogram (for both ears) from baseline to 12 months
Tympanometry (at year 2)
Time frame: at 24 months from recruitment
Changes in tympanogram (for both ears) from baseline to 24 months
Audiometry
Time frame: at baseline
Results of audiometry: type of audiometry and results based on WHO hearing loss grades (for both ears)
Audiometry (at year 1)
Time frame: at 12 months from recruitment
Changes in audiometry results from baseline to 12 months
Audiometry (at year 2)
Time frame: at 24 months from recruitment
Changes in audiometry results from baseline to 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Dec 2025.
- Derived from this study: PubMed 34635525Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Bequignon E, Boon M, Burgess A, Coste A, Emiralioglu N, Erdem E, Haarman EG, Harris A, Hool SL, Karadag B, Kim S, Latzin P, Lorent N, Ozcelik U, Reula A, Roehmel J, van Gogh C, Yiallouros P, Zappe SM; EPIC-PCD team; Papon JF. Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD). BMJ Open. 2021 Oct 11;11(10):e051433. doi: 10.1136/bmjopen-2021-051433.
- Individual participant dataSharing planned: Undecided. Not all participating centres have ethical approval to share IPD to external researchers. Researchers wanting to use the dataset can propose a research topic and draft a concept sheet describing the planned analyses and publication. All concept sheets have to be approved by all participating centres contributing data to the proposed analysis under question. After the participating centres agree to contribute their data and sign a publication agreement, the EPIC-PCD managing centre (University of Bern) will prepare a partial dataset for the proposed analysis and will work closely with the lead researchers offering methodological input and support. In case additional data is collected to complete the partial dataset for a specific project, this will be added to the EPIC-PCD dataset to enrich it after each project.
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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.
Myrofora Goutaki, MD-PhD principal investigator
University of Bern
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 and Kartagener Syndrome, run by University of Bern at 1 site in Switzerland.
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 2 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 2 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 1 site in Switzerland. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Myrofora Goutaki, MD-PhD (0041 316315973, myrofora.goutaki@unibe.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sinonasal symptoms and signs (time frame: at baseline). The study lists 27 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04611516, which also lists 1 linked publication.
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 2 Dec 2025.