RT Journal Article
SR Electronic
T1 The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 1601181
DO 10.1183/13993003.01181-2016
VO 49
IS 1
A1 Myrofora Goutaki
A1 Elisabeth Maurer
A1 Florian S. Halbeisen
A1 Israel Amirav
A1 Angelo Barbato
A1 Laura Behan
A1 Mieke Boon
A1 Carmen Casaulta
A1 Annick Clement
A1 Suzanne Crowley
A1 Eric Haarman
A1 Claire Hogg
A1 Bulent Karadag
A1 Cordula Koerner-Rettberg
A1 Margaret W. Leigh
A1 Michael R. Loebinger
A1 Henryk Mazurek
A1 Lucy Morgan
A1 Kim G. Nielsen
A1 Heymut Omran
A1 Nicolaus Schwerk
A1 Sergio Scigliano
A1 Claudius Werner
A1 Panayiotis Yiallouros
A1 Zorica Zivkovic
A1 Jane S. Lucas
A1 Claudia E. Kuehni
YR 2017
UL http://erj.ersjournals.com/content/49/1/1601181.abstract
AB Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort).We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format.As of April 2016 the iPCD Cohort includes data on 3013 patients from 18 countries. It includes data on diagnostic evaluations, symptoms, lung function, growth and treatments. Longitudinal data are currently available for 542 patients. The extent of clinical details per patient varies between centres. More than 50% of patients have a definite PCD diagnosis based on recent guidelines. Children aged 10–19 years are the largest age group, followed by younger children (≤9 years) and young adults (20–29 years).This is the largest observational PCD dataset available to date. It will allow us to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments, and to investigate genotype–phenotype correlations.The iPCD Cohort offers a unique opportunity to study PCD in an international retrospective cohort of >3000 patients http://ow.ly/rn0m304Jgsu