The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD) (EPIC-PCD)

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.

Study Overview

• Status: Recruiting
• Conditions: Primary Ciliary Dyskinesia; Kartagener Syndrome

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:

1. 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;
2. Study the association of sinonasal and otologic disease with lower respiratory disease in PCD patients;
3. Identify determinants of disease course and prognosis of sinonasal and otologic disease in PCD patients
4. 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 Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Myrofora Goutaki, MD-PhD; Phone Number: 0041 316315973; Email: myrofora.goutaki@unibe.ch

Study Locations

• Switzerland
  • Bern, Switzerland
    • Recruiting
    • University of Bern
    • Contact: Myrofora Goutaki, MD; Phone Number: +41316845973; Email: myrofora.goutaki@.unibe.ch

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients of all ages diagnosed with PCD, followed in a collaborating PCD centre

Description

Inclusion Criteria:

• Diagnosis of PCD (clinical and test certified)
• Patient must undergo an ENT examination minimum once a year as part of their clinical follow-up

Exclusion Criteria:

None

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sinonasal symptoms and signs	Prevalence of reported clinical symptoms at different age groups, including rhinitis, sinusitis, snoring	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	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	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	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	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	at 24 months from recruitment
Nasal endoscopy (description of nasal mucosa)	Description of nasal mucosa as seen via nasal endoscopy examination	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	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	at 24 months from recruitment
Nasal endoscopy (nasal polyps)	Prevalence of nasal polyps at baseline	at baseline
Nasal endoscopy (nasal polyps at year 1)	Changes in prevalence of nasal polyps from baseline to 12 months	at 12 months from recruitment
Nasal endoscopy (nasal polyps at year 2)	Changes in prevalence of nasal polyps from baseline to 24 months	at 24 months from recruitment
Sinonasal examination (Lidholdt score)	Lidholdt score at baseline	at baseline
Sinonasal examination (Lidholdt score at year 1)	Changes in Lidholdt score from baseline to 12 months	at 12 months from recruitment
Sinonasal examination (Lidholdt score at year 2)	Changes in Lidholdt score from baseline to 24 months	at 24 months from recruitment
Ear examination (ear discharge)	Prevalence of ear discharge at baseline	at baseline
Ear examination (ear discharge at year 1)	Changes in prevalence of ear discharge from baseline to 12 months	at 12 months from recruitment
Ear examination (ear discharge at year 2)	Changes in prevalence of ear discharge from baseline to 24 months	at 24 months from recruitment
Otoscopy (description of the tympanic membrane)	Description of tympanic membrane as seen via otoscopy examination	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	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	at 24 months from recruitment
Tympanometry	Results of tympanometry (tympanogram type for both ears) at baseline	at baseline
Tympanometry (at year 1)	Changes in tympanogram (for both ears) from baseline to 12 months	at 12 months from recruitment
Tympanometry (at year 2)	Changes in tympanogram (for both ears) from baseline to 24 months	at 24 months from recruitment
Audiometry	Results of audiometry: type of audiometry and results based on WHO hearing loss grades (for both ears)	at baseline
Audiometry (at year 1)	Changes in audiometry results from baseline to 12 months	at 12 months from recruitment
Audiometry (at year 2)	Changes in audiometry results from baseline to 24 months	at 24 months from recruitment

Collaborators and Investigators

• Sponsor: University of Bern
• Collaborators: Centre Hospitalier Intercommunal Creteil; Hacettepe University; Universitaire Ziekenhuizen KU Leuven; Marmara University; Amsterdam UMC, location VUmc; University Hospital Southampton NHS Foundation Trust; Hospital Universitario La Fe; Bicetre Hospital; University of Cyprus; Insel Gruppe AG, University Hospital Bern
• Investigators: Principal Investigator: Myrofora Goutaki, MD-PhD, University of Bern

Publications and helpful links

General 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.

Study record dates

Study Major Dates

• Study Start (Actual): March 2, 2020
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2040

Study Registration Dates

• First Submitted: October 8, 2020
• First Submitted That Met QC Criteria: October 26, 2020
• First Posted (Actual): November 2, 2020

Study Record Updates

• Last Update Posted (Estimated): December 2, 2025
• Last Update Submitted That Met QC Criteria: November 24, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Ciliopathies; Cardiovascular Diseases; Heart Diseases; Genetic Diseases, Inborn; Respiratory Tract Diseases; Bronchial Diseases; Congenital Abnormalities; Otorhinolaryngologic Diseases; Cardiovascular Abnormalities; Heart Defects, Congenital; Abnormalities, Multiple; Respiratory System Abnormalities; Bronchiectasis; Dextrocardia; Situs Inversus; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliary Motility Disorders; Kartagener Syndrome
• Other Study ID Numbers: EPIC-PCD

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

IPD Plan Description

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.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No