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

Myrofora Goutaki, Yin Ting Lam, Mihaela Alexandru, Andreas Anagiotos, Miguel Armengot, Emilie Bequignon, Mieke Boon, Andrea Burgess, Andre Coste, Nagehan Emiralioglu, Ela Erdem, Eric G Haarman, Amanda Harris, Sara-Lynn Hool, Bulent Karadag, Sookyung Kim, Philipp Latzin, Natalie Lorent, Ugur Ozcelik, Ana Reula, Jobst Roehmel, Christine van Gogh, Panayiotis Yiallouros, Soeren Marian Zappe, EPIC-PCD team, Jean Francois Papon, Myrofora Goutaki, Yin Ting Lam, Mihaela Alexandru, Andreas Anagiotos, Miguel Armengot, Emilie Bequignon, Mieke Boon, Andrea Burgess, Andre Coste, Nagehan Emiralioglu, Ela Erdem, Eric G Haarman, Amanda Harris, Sara-Lynn Hool, Bulent Karadag, Sookyung Kim, Philipp Latzin, Natalie Lorent, Ugur Ozcelik, Ana Reula, Jobst Roehmel, Christine van Gogh, Panayiotis Yiallouros, Soeren Marian Zappe, EPIC-PCD team, Jean Francois Papon

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).

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.

© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ.

Figures

Figure 1
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
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.

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