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Journal Articles European Respiratory Journal Year : 2017

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

Myrofora Goutaki
  • Function : Author
Elisabeth Maurer
  • Function : Author
Florian S Halbeisen
  • Function : Author
Israel Amirav
  • Function : Author
Angelo Barbato
  • Function : Author
Laura Behan
  • Function : Author
Mieke Boon
  • Function : Author
Carmen Casaulta
  • Function : Author
Suzanne Crowley
  • Function : Author
Eric Haarman
  • Function : Author
Claire Hogg
  • Function : Author
Bulent Karadag
  • Function : Author
Cordula Koerner-Rettberg
  • Function : Author
Margaret W Leigh
  • Function : Author
Michael R Loebinger
  • Function : Author
Henryk Mazurek
  • Function : Author
Lucy Morgan
  • Function : Author
Kim G Nielsen
  • Function : Author
Heymut Omran
  • Function : Author
Nicolaus Schwerk
  • Function : Author
Sergio Scigliano
  • Function : Author
Claudius Werner
  • Function : Author
Panayiotis Yiallouros
  • Function : Author
Zorica Zivkovic
  • Function : Author
Jane S Lucas
  • Function : Author
Claudia E Kuehni
  • Function : Correspondent author
  • PersonId : 1239819

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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.
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inserm-04040894 , version 1 (22-03-2023)

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Myrofora Goutaki, Elisabeth Maurer, Florian S Halbeisen, Israel Amirav, Angelo Barbato, et al.. The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. European Respiratory Journal, 2017, 49 (1), pp.1601181. ⟨10.1183/13993003.01181-2016⟩. ⟨inserm-04040894⟩
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