Cargando…
Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)
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, alth...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506890/ https://www.ncbi.nlm.nih.gov/pubmed/34635525 http://dx.doi.org/10.1136/bmjopen-2021-051433 |
_version_ | 1784581774877130752 |
---|---|
author | 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 Roehmel, Jobst van Gogh, Christine Yiallouros, Panayiotis Zappe, Soeren Marian Papon, Jean Francois |
author_facet | 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 Roehmel, Jobst van Gogh, Christine Yiallouros, Panayiotis Zappe, Soeren Marian Papon, Jean Francois |
author_sort | Goutaki, Myrofora |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8506890 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-85068902021-10-22 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 Roehmel, Jobst van Gogh, Christine Yiallouros, Panayiotis Zappe, Soeren Marian Papon, Jean Francois BMJ Open Epidemiology 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. BMJ Publishing Group 2021-10-11 /pmc/articles/PMC8506890/ /pubmed/34635525 http://dx.doi.org/10.1136/bmjopen-2021-051433 Text en © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Epidemiology 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 Roehmel, Jobst van Gogh, Christine Yiallouros, Panayiotis Zappe, Soeren Marian Papon, Jean Francois Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
title | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
title_full | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
title_fullStr | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
title_full_unstemmed | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
title_short | Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD) |
title_sort | study protocol: the ear–nose–throat (ent) prospective international cohort of patients with primary ciliary dyskinesia (epic-pcd) |
topic | Epidemiology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506890/ https://www.ncbi.nlm.nih.gov/pubmed/34635525 http://dx.doi.org/10.1136/bmjopen-2021-051433 |
work_keys_str_mv | AT goutakimyrofora studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT lamyinting studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT alexandrumihaela studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT anagiotosandreas studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT armengotmiguel studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT bequignonemilie studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT boonmieke studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT burgessandrea studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT costeandre studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT emiralioglunagehan studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT erdemela studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT haarmanericg studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT harrisamanda studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT hoolsaralynn studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT karadagbulent studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT kimsookyung studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT latzinphilipp studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT lorentnatalie studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT ozcelikugur studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT reulaana studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT roehmeljobst studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT vangoghchristine studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT yiallourospanayiotis studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT zappesoerenmarian studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd AT paponjeanfrancois studyprotocoltheearnosethroatentprospectiveinternationalcohortofpatientswithprimaryciliarydyskinesiaepicpcd |