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

Goutaki, Myrofora; Lam, Yin Ting; Alexandru, Mihaela; Anagiotos, Andreas; Armengot, Miguel; Bequignon, Emilie; Boon, Mieke; Burgess, Andrea; Coste, Andre; Emiralioglu, Nagehan; Erdem, Ela; Haarman, Eric G; Harris, Amanda; Hool, Sara-Lynn; Karadag, Bulent; Kim, Sookyung; Latzin, Philipp; Lorent, Natalie; Ozcelik, Ugur; Reula, Ana; ... (2021). Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD). BMJ open, 11(10), e051433. BMJ Publishing Group 10.1136/bmjopen-2021-051433

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ear, Nose and Throat Disorders (ENT)
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Pneumology

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Goutaki, Myrofora; Lam, Yin Ting; Hool, Sara-Lynn and Latzin, Philipp

Subjects:

600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

2044-6055

Publisher:

BMJ Publishing Group

Funders:

[4] Swiss National Science Foundation

Language:

English

Submitter:

Anette van Dorland

Date Deposited:

22 Oct 2021 14:58

Last Modified:

28 Jul 2022 16:28

Publisher DOI:

10.1136/bmjopen-2021-051433

PubMed ID:

34635525

Uncontrolled Keywords:

audiology chronic airways disease epidemiology paediatric otolaryngology paediatric thoracic medicine respiratory medicine (see thoracic medicine)

BORIS DOI:

10.48350/160284

URI:

https://boris.unibe.ch/id/eprint/160284

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