TY - JOUR
T1 - Study protocol
T2 - the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)
AU - EPIC-PCD team
AU - Goutaki, Myrofora
AU - Lam, Yin Ting
AU - Alexandru, Mihaela
AU - Anagiotos, Andreas
AU - Armengot, Miguel
AU - Bequignon, Emilie
AU - Boon, Mieke
AU - Burgess, Andrea
AU - Coste, Andre
AU - Emiralioglu, Nagehan
AU - Erdem, Ela
AU - Haarman, Eric G
AU - Harris, Amanda
AU - Hool, Sara-Lynn
AU - Karadag, Bulent
AU - Kim, Sookyung
AU - Latzin, Philipp
AU - Lorent, Natalie
AU - Ozcelik, Ugur
AU - Reula, Ana
AU - Roehmel, Jobst
AU - van Gogh, Christine
AU - Yiallouros, Panayiotis
AU - Zappe, Soeren Marian
AU - Papon, Jean Francois
N1 - Funding Information: This work was supported by the Swiss National Science Foundation grant number (SNFPZ00P3_185923). Future grant applications by all partners to different funding bodies will provide continuous support. Authors participate in the better experimental approaches to treat primary ciliary dyskinesia (PCD) clinical research collaboration, supported by the European Respiratory Society, and most participating centres are part of the European Reference Network-LUNG PCD-Core. Funding Information: Funding This work was supported by the Swiss National Science Foundation grant number (SNFPZ00P3_185923). Future grant applications by all partners to different funding bodies will provide continuous support. Authors participate in the better experimental approaches to treat primary ciliary dyskinesia (PCD) clinical research collaboration, supported by the European Respiratory Society, and most participating centres are part of the European Reference Network-LUNG PCD-Core. Publisher Copyright: © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ.
PY - 2021/10/11
Y1 - 2021/10/11
N2 - 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.
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.
KW - audiology
KW - chronic airways disease
KW - epidemiology
KW - paediatric otolaryngology
KW - paediatric thoracic medicine
KW - respiratory medicine (see thoracic medicine)
UR - http://www.scopus.com/inward/record.url?scp=85117085591&partnerID=8YFLogxK
U2 - https://doi.org/10.1136/bmjopen-2021-051433
DO - https://doi.org/10.1136/bmjopen-2021-051433
M3 - Article
C2 - 34635525
SN - 2044-6055
VL - 11
SP - e051433
JO - BMJ Open
JF - BMJ Open
IS - 10
M1 - e051433
ER -