Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)
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, altho...
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2021-10-01
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| author | 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 |
| author_facet | 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 |
| author_sort | Andreas Anagiotos |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5e574ce429674f9a97c4b49e0130f59d |
| institution | OA Journals |
| issn | 2044-6055 |
| language | English |
| publishDate | 2021-10-01 |
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| spelling | doaj-art-5e574ce429674f9a97c4b49e0130f59d2025-08-20T02:23:04ZengBMJ Publishing GroupBMJ Open2044-60552021-10-01111010.1136/bmjopen-2021-051433Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)Andreas Anagiotos0Myrofora Goutaki1André Coste2Nagehan Emiralioglu3Amanda Harris4Andrea Burgess5Mieke Boon6Philipp Latzin7Jean François Papon8Eric G Haarman9Natalie Lorent10Yin Ting Lam11Mihaela Alexandru12Miguel Armengot13Emilie Bequignon14Ela Erdem15Sara-Lynn Hool16Bulent Karadag17Sookyung Kim18Ugur Ozcelik19Ana Reula20Jobst Roehmel21Christine van Gogh22Panayiotis Yiallouros23Soeren Marian Zappe24Department of Otorhinolaryngology, Nicosia General Hospital, Nicosia, CyprusInstitute of Social and Preventive Medicine, University of Bern, Bern, Switzerland15 Otorhinolaryngology - Head and Neck department, AP-HP Henri Mondor Hospital, F-94010 Créteil, Île-de-France, FrancePediatric Pulmonology, Hacettepe University, Ankara, TurkeyPrimary Ciliary Dyskinesia Centre, NIHR Respiratory Biomedical Research Centre, University of Southampton, Southampton, UKQueensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Medicine, The University of Queensland Child Health Research Centre, South Brisbane, Queensland, AustraliaDepartment of Development and Regeneration, Woman and Child Unit, CF Research Lab, KU Leuven, Leuven, Belgium3 Inselspital, Kinderklinik, University of Bern, Bern, Switzerland6 Otorhinolaryngology – Head and neck department - Université Paris-Saclay, Assistance Publique - Hopitaux de Paris - Bicêtre Hospital, Paris, Île-de-France, FranceDepartment of Paediatric Pulmonology, Emma Childrens Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The NetherlandsRespiratory Diseases, KU Leuven University Hospitals Leuven, Leuven, Flanders, BelgiumInstitute of Social and Preventive Medicine, University of Bern, Bern, SwitzerlandHôpital Kremlin-Bicetre, Service d’ORL et de Chirurgie Cervico-Faciale, AP-HP, Paris, FranceDepartment of Otorhinolaryngology, and Primary Ciliary Dyskinesia Unit, La Fe University and Polytechnic Hospital, Valencia, SpainHôpital Henri Mondor et Centre Hospitalier Intercommunal de Créteil, Service d’Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, AP-HP, Creteil, FranceDepartment of Pediatric Pulmonology, School of Medicine, Marmara University, Istanbul, TurkeyDepartment of Otorhinolaryngology, Head and Neck Surgery, University Hospital of Bern, University of Bern, Bern, SwitzerlandDepartment of Pediatric Pulmonology, School of Medicine, Marmara University, Istanbul, TurkeyHôpital Kremlin-Bicetre, Service d’ORL et de Chirurgie Cervico-Faciale, AP-HP, Paris, FranceDepartment of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, TurkeyBiomedical Sciences Department, CEU Cardenal Herrera University, Castellón, SpainDepartment of Pediatric Pulmonology, Immunology and Critical Care Medicine, Charité – Universitätsmedizin Berlin, Berlin, GermanyDepartment of Otolaryngology, Head and Neck Surgery, Amsterdam University Medical Centres, Amsterdam, The NetherlandsMedical School, University of Cyprus, Nicosia, CyprusDepartment of Otorhinolaryngology, Head and Neck Surgery, Charité – Universitätsmedizin Berlin, Berlin, GermanyIntroduction 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.https://bmjopen.bmj.com/content/11/10/e051433.full |
| spellingShingle | 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 Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) BMJ Open |
| title | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
| title_full | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
| title_fullStr | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
| title_full_unstemmed | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
| title_short | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
| title_sort | study protocol the ear nose throat ent prospective international cohort of patients with primary ciliary dyskinesia epic pcd |
| url | https://bmjopen.bmj.com/content/11/10/e051433.full |
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