. 2021 Oct 11;11(10):e051433.

doi: 10.1136/bmjopen-2021-051433.

Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

Myrofora Goutaki^{1

2}, Yin Ting Lam³, Mihaela Alexandru^{4

5}, Andreas Anagiotos⁶, Miguel Armengot^{7

8}, Emilie Bequignon⁹, Mieke Boon¹⁰, Andrea Burgess¹¹, Andre Coste^{9

12}, Nagehan Emiralioglu¹³, Ela Erdem¹⁴, Eric G Haarman¹⁵, Amanda Harris¹⁶, Sara-Lynn Hool¹⁷, Bulent Karadag¹⁴, Sookyung Kim⁴, Philipp Latzin², Natalie Lorent¹⁸, Ugur Ozcelik¹³, Ana Reula^{19

20}, Jobst Roehmel²¹, Christine van Gogh²², Panayiotis Yiallouros^{23

24}, Soeren Marian Zappe²⁵; EPIC-PCD team; Jean Francois Papon^{4

5}

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland myrofora.goutaki@ispm.unibe.ch.
² Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
³ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
⁴ Hôpital Kremlin-Bicetre, Service d'ORL et de Chirurgie Cervico-Faciale, AP-HP, Paris, France.
⁵ Faculté de Médecine, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France.
⁶ Department of Otorhinolaryngology, Nicosia General Hospital, Nicosia, Cyprus.
⁷ Department of Otorhinolaryngology, and Primary Ciliary Dyskinesia Unit, La Fe University and Polytechnic Hospital, Valencia, Spain.
⁸ Medical School, University of Valencia, Valencia, Spain.
⁹ Hôpital Henri Mondor et Centre Hospitalier Intercommunal de Créteil, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, AP-HP, Creteil, France.
¹⁰ Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium.
¹¹ Primary Ciliary Dyskinesia Centre, Southampton Children's Hospital, Southampton NHS Foundation Trust, Southampton, UK.
¹² Faculté de médecine, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Hôpital Henri Mondor, Université Paris-Est Créteil Val de Marne, Creteil, France.
¹³ Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
¹⁴ Department of Pediatric Pulmonology, School of Medicine, Marmara University, Istanbul, Turkey.
¹⁵ Department of Paediatric Pulmonology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
¹⁶ Primary Ciliary Dyskinesia Centre, NIHR Respiratory Biomedical Research Centre, University of Southampton, Southampton, UK.
¹⁷ Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital of Bern, University of Bern, Bern, Switzerland.
¹⁸ Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium.
¹⁹ Biomedical Sciences Department, CEU Cardenal Herrera University, Castellón, Spain.
²⁰ Molecular, Cellular and Genomic Biomedicine Group, IIS La Fe, Valencia, Spain.
²¹ Department of Pediatric Pulmonology, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.
²² Department of Otolaryngology, Head and Neck Surgery, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
²³ Medical School, University of Cyprus, Nicosia, Cyprus.
²⁴ Pediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus.
²⁵ Department of Otorhinolaryngology, Head and Neck Surgery, Charité - Universitätsmedizin Berlin, Berlin, Germany.

PMID: 34635525
PMCID: PMC8506890
DOI: 10.1136/bmjopen-2021-051433

Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

Myrofora Goutaki et al. BMJ Open. 2021.

. 2021 Oct 11;11(10):e051433.

doi: 10.1136/bmjopen-2021-051433.

Authors

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland myrofora.goutaki@ispm.unibe.ch.
² Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
³ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
⁴ Hôpital Kremlin-Bicetre, Service d'ORL et de Chirurgie Cervico-Faciale, AP-HP, Paris, France.
⁵ Faculté de Médecine, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France.
⁶ Department of Otorhinolaryngology, Nicosia General Hospital, Nicosia, Cyprus.
⁷ Department of Otorhinolaryngology, and Primary Ciliary Dyskinesia Unit, La Fe University and Polytechnic Hospital, Valencia, Spain.
⁸ Medical School, University of Valencia, Valencia, Spain.
⁹ Hôpital Henri Mondor et Centre Hospitalier Intercommunal de Créteil, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, AP-HP, Creteil, France.
¹⁰ Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium.
¹¹ Primary Ciliary Dyskinesia Centre, Southampton Children's Hospital, Southampton NHS Foundation Trust, Southampton, UK.
¹² Faculté de médecine, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Hôpital Henri Mondor, Université Paris-Est Créteil Val de Marne, Creteil, France.
¹³ Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
¹⁴ Department of Pediatric Pulmonology, School of Medicine, Marmara University, Istanbul, Turkey.
¹⁵ Department of Paediatric Pulmonology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
¹⁶ Primary Ciliary Dyskinesia Centre, NIHR Respiratory Biomedical Research Centre, University of Southampton, Southampton, UK.
¹⁷ Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital of Bern, University of Bern, Bern, Switzerland.
¹⁸ Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium.
¹⁹ Biomedical Sciences Department, CEU Cardenal Herrera University, Castellón, Spain.
²⁰ Molecular, Cellular and Genomic Biomedicine Group, IIS La Fe, Valencia, Spain.
²¹ Department of Pediatric Pulmonology, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.
²² Department of Otolaryngology, Head and Neck Surgery, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
²³ Medical School, University of Cyprus, Nicosia, Cyprus.
²⁴ Pediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus.
²⁵ Department of Otorhinolaryngology, Head and Neck Surgery, Charité - Universitätsmedizin Berlin, Berlin, Germany.

PMID: 34635525
PMCID: PMC8506890
DOI: 10.1136/bmjopen-2021-051433

Abstract

Introduction: Primary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear-nose-throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospective, observational, multinational cohort study focusing on ENT disease in patients with PCD.

Methods and analysis: The ENT prospective international cohort of patients with PCD (EPIC-PCD) is a prospective standardised observational clinical cohort set up as a multinational multicentre study, embedded into routine patient care. It aims to longitudinally characterise ENT disease in patients with PCD and its association with lung disease, and to identify determinants of its prognosis. Patients of all ages, diagnosed with PCD who undergo an ENT clinical assessment at least once a year at one of the participating centres will be invited to participate. Collected data include diagnostic test results, results of ENT examinations, lung function measurements, information on management of ENT disease and patient-reported data on clinical symptoms and health-related quality of life (QoL). Data are collected using the standardised PCD-specific FOLLOW-PCD form and the validated QoL-PCD questionnaire.

Ethics and dissemination: The study has been reviewed and approved by the Human Research Ethics Committees at all participating centres, based on local legislation. The results of the study will be published in scientific journals, presented at scientific conferences and disseminated to participants and national patient organisations.

Trial registration: NCT04611516.

Keywords: audiology; chronic airways disease; epidemiology; paediatric otolaryngology; paediatric thoracic medicine; respiratory medicine (see thoracic medicine).

PubMed Disclaimer

Conflict of interest statement

Competing interests: PL reports personal fees from Gilead, Novartis, OM pharma, Polyphor, Roche, Santhera, Schwabe, Vertex, Vifor and Zambon, and grants from Vertex, all outside the submitted work.

Figures

**Figure 1**
Centres currently participating to the EPIC-PCD cohort study. The EPIC-PCD clinics are marked with a black dot and the EPIC-PCD data centre with a yellow dot. EPIC-PCD, ear–nose–throat prospective international cohort of patients with primary ciliary dyskinesia.

**Figure 2**
Overview of the information collected during the EPIC-PCD cohort study. ENT, ear–nose–throat; EPIC-PCD, ear–nose–throat prospective international cohort of patients with primary ciliary dyskinesia; SNOT-22, Sino-Nasal Outcome Test-22.

See this image and copyright information in PMC

References

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Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

Affiliations

Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

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MeSH terms

Associated data

LinkOut - more resources

Full Text Sources

Medical

Research Materials

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