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

Abstract

IntroductionPrimary 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 analysisThe 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 disseminationThe 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 registrationNCT04611516.

Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study

“…These results should be confirmed by a prospective, multicenter study such as the running EPIC-PCD cohort study [ 23 ]. More studies are also needed to better understand the pathophysiology of hearing impairment in PCD.…”

Respiratory symptoms of Swiss people with primary ciliary dyskinesia

“…Yet, it could also indicate distinct PCD phenotypes. Standardising detailed clinical information about PCD symptoms and using appropriate methodological approaches in large collaborative studies are needed to better characterise the phenotypic variability of PCD and describe phenotypic groups [ 21 , 34 , 40 , 41 ].…”

Otologic disease among patients with primary ciliary dyskinesia - an international observational study

“…We analyzed data from the ear-nose-throat (ENT) prospective international cohort of patients with PCD (EPIC-PCD)—an observational multicenter clinical cohort set up in February 2020 hosted at the University of Bern (clinicaltrials.gov identifier: NCT04611516). 27 EPIC-PCD includes clinical information about patients with PCD of all ages diagnosed by European Respiratory Society (ERS) guidelines and followed at participating centers. 28 We excluded patients without at least 1 ENT follow-up visit during a year-long period.…”