title: The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.
abstract: 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.
authors.affiliation: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.|Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
authors.forename: Myrofora
authors.initials: M
authors.lastname: Goutaki
authors.affiliation: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Maurer
authors.affiliation: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
authors.forename: Florian S
authors.initials: FS
authors.lastname: Halbeisen
authors.affiliation: Dept of Pediatrics, Faculty of Medicine, Bar IIan University, Ramat Gan, Israel.
authors.forename: Israel
authors.initials: I
authors.lastname: Amirav
authors.forename: Angelo
authors.initials: A
authors.lastname: Barbato
authors.affiliation: Primary Ciliary Dyskinesia Centre, NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Laura
authors.initials: L
authors.lastname: Behan
authors.affiliation: Dept of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: Mieke
authors.initials: M
authors.lastname: Boon
authors.forename: Carmen
authors.initials: C
authors.lastname: Casaulta
authors.forename: Annick
authors.initials: A
authors.lastname: Clement
authors.affiliation: Unit for Paediatric Heart, Lung and Allergic Diseases, Rikshospitalet, Oslo, Norway.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Crowley
authors.affiliation: Dept of Pediatric Pulmonology, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Eric
authors.initials: E
authors.lastname: Haarman
authors.affiliation: Dept of Paediatrics, Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Foundation Trust, London, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Hogg
authors.affiliation: Dept of Paediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey.
authors.forename: Bulent
authors.initials: B
authors.lastname: Karadag
authors.affiliation: Dept of Paediatric Pneumology, University Children's Hospital of Ruhr University Bochum, Bochum, Germany.
authors.forename: Cordula
authors.initials: C
authors.lastname: Koerner-Rettberg
authors.forename: Margaret W
authors.initials: MW
authors.lastname: Leigh
authors.affiliation: Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Loebinger
authors.affiliation: Dept of Pneumonology and Cystic Fibrosis, Institute of Tuberculosis and Lung Disorders, Rabka-Zdrój, Poland.
authors.forename: Henryk
authors.initials: H
authors.lastname: Mazurek
authors.affiliation: Dept of Respiratory Medicine, Concord Hospital Clinical School, University of Sydney, Sydney, Australia.
authors.forename: Lucy
authors.initials: L
authors.lastname: Morgan
authors.affiliation: Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Copenhagen University Hospital, Copenhagen, Denmark.
authors.forename: Kim G
authors.initials: KG
authors.lastname: Nielsen
authors.affiliation: Dept of General Paediatrics and Adolescent Medicine, University Hospital Muenster, Muenster, Germany.
authors.forename: Heymut
authors.initials: H
authors.lastname: Omran
authors.affiliation: Clinic for Paediatric Pulmonology, Allergiology and Neonatology, Hannover Medical School, Hannover, Germany.
authors.forename: Nicolaus
authors.initials: N
authors.lastname: Schwerk
authors.affiliation: Centro Respiratorio, Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina.
authors.forename: Sergio
authors.initials: S
authors.lastname: Scigliano
authors.affiliation: Dept of General Paediatrics and Adolescent Medicine, University Hospital Muenster, Muenster, Germany.
authors.forename: Claudius
authors.initials: C
authors.lastname: Werner
authors.affiliation: Medical School, University of Cyprus, Nicosia, Cyprus.
authors.forename: Panayiotis
authors.initials: P
authors.lastname: Yiallouros
authors.affiliation: Children's Hospital for Lung Diseases and TB, Medical Centre "Dr Dragisa Misovic", Belgrade, Serbia.|Faculty of Pharmacy, University Business Academy, Novi Sad, Serbia.
authors.forename: Zorica
authors.initials: Z
authors.lastname: Zivkovic
authors.affiliation: Primary Ciliary Dyskinesia Centre, NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Jane S
authors.initials: JS
authors.lastname: Lucas
authors.affiliation: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland claudia.kuehni@ispm.unibe.ch.
authors.forename: Claudia E
authors.initials: CE
authors.lastname: Kuehni
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005060:Europe; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000503:physiopathology*; D008297:Male; D015201:Meta-Analysis as Topic; D008875:Middle Aged; D010641:Phenotype; D011379:Prognosis; D012189:Retrospective Studies; D012196:Review Literature as Topic; D012720:Severity of Illness Index; D055815:Young Adult