The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results
Author(s)
Type
Journal Article
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.
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.
Date Issued
2017-01-04
Date Acceptance
2016-09-27
Citation
European Respiratory Journal, 2017, 49 (1)
ISSN
0903-1936
Publisher
European Respiratory Society
Journal / Book Title
European Respiratory Journal
Volume
49
Issue
1
Copyright Statement
Copyright ©ERS 2017
This ERJ Open article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
This ERJ Open article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
Subjects
Science & Technology
Life Sciences & Biomedicine
Respiratory System
LUNG-FUNCTION
EUROPEAN CHILDREN
POPULATION
DIAGNOSIS
FEATURES
DEFECTS
DISEASE
Publication Status
Published
Article Number
1601181