RT Journal Article
SR Electronic
T1 Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)
JF BMJ Open
JO BMJ Open
FD British Medical Journal Publishing Group
SP e051433
DO 10.1136/bmjopen-2021-051433
VO 11
IS 10
A1 Myrofora Goutaki
A1 Yin Ting Lam
A1 Mihaela Alexandru
A1 Andreas Anagiotos
A1 Miguel Armengot
A1 Emilie Bequignon
A1 Mieke Boon
A1 Andrea Burgess
A1 Andre Coste
A1 Nagehan Emiralioglu
A1 Ela Erdem
A1 Eric G Haarman
A1 Amanda Harris
A1 Sara-Lynn Hool
A1 Bulent Karadag
A1 Sookyung Kim
A1 Philipp Latzin
A1 Natalie Lorent
A1 Ugur Ozcelik
A1 Ana Reula
A1 Jobst Roehmel
A1 Christine van Gogh
A1 Panayiotis Yiallouros
A1 Soeren Marian Zappe
A1 On behalf of the EPIC-PCD team
A1 Jean Francois Papon
YR 2021
UL http://bmjopen.bmj.com/content/11/10/e051433.abstract
AB 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.Data are available upon reasonable request.