Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)
Andreas Anagiotos,
Myrofora Goutaki,
André Coste,
Nagehan Emiralioglu,
Amanda Harris,
Andrea Burgess,
Mieke Boon,
Philipp Latzin,
Jean François Papon,
Eric G Haarman,
Natalie Lorent,
Yin Ting Lam,
Mihaela Alexandru,
Miguel Armengot,
Emilie Bequignon,
Ela Erdem,
Sara-Lynn Hool,
Bulent Karadag,
Sookyung Kim,
Ugur Ozcelik,
Ana Reula,
Jobst Roehmel,
Christine van Gogh,
Panayiotis Yiallouros,
Soeren Marian Zappe
Affiliations
Andreas Anagiotos
Department of Otorhinolaryngology, Nicosia General Hospital, Nicosia, Cyprus
Myrofora Goutaki
Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
André Coste
15 Otorhinolaryngology - Head and Neck department, AP-HP Henri Mondor Hospital, F-94010 Créteil, Île-de-France, France
Nagehan Emiralioglu
Pediatric Pulmonology, Hacettepe University, Ankara, Turkey
Amanda Harris
Primary Ciliary Dyskinesia Centre, NIHR Respiratory Biomedical Research Centre, University of Southampton, Southampton, UK
Andrea Burgess
Queensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Medicine, The University of Queensland Child Health Research Centre, South Brisbane, Queensland, Australia
Mieke Boon
Department of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium
Philipp Latzin
3 Inselspital, Kinderklinik, University of Bern, Bern, Switzerland
Jean François Papon
6 Otorhinolaryngology – Head and neck department - Université Paris-Saclay, Assistance Publique - Hopitaux de Paris - Bicêtre Hospital, Paris, Île-de-France, France
Eric G Haarman
Department of Paediatric Pulmonology, Emma Childrens Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
Natalie Lorent
Respiratory Diseases, KU Leuven University Hospitals Leuven, Leuven, Flanders, Belgium
Yin Ting Lam
Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
Mihaela Alexandru
Hôpital Kremlin-Bicetre, Service d’ORL et de Chirurgie Cervico-Faciale, AP-HP, Paris, France
Miguel Armengot
Department of Otorhinolaryngology, and Primary Ciliary Dyskinesia Unit, La Fe University and Polytechnic Hospital, Valencia, Spain
Emilie Bequignon
Hôpital Henri Mondor et Centre Hospitalier Intercommunal de Créteil, Service d’Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, AP-HP, Creteil, France
Ela Erdem
Department of Pediatric Pulmonology, School of Medicine, Marmara University, Istanbul, Turkey
Sara-Lynn Hool
Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital of Bern, University of Bern, Bern, Switzerland
Bulent Karadag
Department of Pediatric Pulmonology, School of Medicine, Marmara University, Istanbul, Turkey
Sookyung Kim
Hôpital Kremlin-Bicetre, Service d’ORL et de Chirurgie Cervico-Faciale, AP-HP, Paris, France
Ugur Ozcelik
Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
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.
