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

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results
The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results
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.
0903-1936
1-10
Goutaki, M.
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Maurer, E.
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Halbeisen, F.S.
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Amirav, I.
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Barbato, A.
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Behan, L.
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Boon, M.
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Casaulta, C.
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Clement, A.
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Crowley, S.
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Haarman, E.
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Hogg, C.
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Karadag, B.
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Koerner-Rettberg, C.
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Leigh, M.W.
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Loebinger, M.R.
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Mazurek, H.
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Morgan, L.
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Neilsen, K.G.
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Omran, H.
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Schwerk, N.
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Scigliano, S.
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Yiallouros, P.
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Zivkovic, Z.
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Lucas, J.S.
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Kuehni, C.E.
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Goutaki, M.
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Maurer, E.
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Halbeisen, F.S.
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Amirav, I.
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Barbato, A.
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Behan, L.
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Boon, M.
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Casaulta, C.
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Clement, A.
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Crowley, S.
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Haarman, E.
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Hogg, C.
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Karadag, B.
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Koerner-Rettberg, C.
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Leigh, M.W.
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Loebinger, M.R.
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Mazurek, H.
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Morgan, L.
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Neilsen, K.G.
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Omran, H.
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Schwerk, N.
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Scigliano, S.
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Werner, C.
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Yiallouros, P.
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Zivkovic, Z.
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Lucas, J.S.
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Kuehni, C.E.
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Goutaki, M., Maurer, E., Halbeisen, F.S., Amirav, I., Barbato, A., Behan, L., Boon, M., Casaulta, C., Clement, A., Crowley, S., Haarman, E., Hogg, C., Karadag, B., Koerner-Rettberg, C., Leigh, M.W., Loebinger, M.R., Mazurek, H., Morgan, L., Neilsen, K.G., Omran, H., Schwerk, N., Scigliano, S., Werner, C., Yiallouros, P., Zivkovic, Z., Lucas, J.S. and Kuehni, C.E. (2016) The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. European Respiratory Journal, 1-10. (doi:10.1183/13993003.01181-2016).

Record type: 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.

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Accepted/In Press date: 27 September 2016
e-pub ahead of print date: 22 December 2016
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 404210
URI: https://eprints.soton.ac.uk/id/eprint/404210
ISSN: 0903-1936
PURE UUID: f2f0545c-6036-4a31-8244-2dc06642add7

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Date deposited: 03 Jan 2017 16:26
Last modified: 10 Dec 2019 06:17

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Contributors

Author: M. Goutaki
Author: E. Maurer
Author: F.S. Halbeisen
Author: I. Amirav
Author: A. Barbato
Author: L. Behan
Author: M. Boon
Author: C. Casaulta
Author: A. Clement
Author: S. Crowley
Author: E. Haarman
Author: C. Hogg
Author: B. Karadag
Author: C. Koerner-Rettberg
Author: M.W. Leigh
Author: M.R. Loebinger
Author: H. Mazurek
Author: L. Morgan
Author: K.G. Neilsen
Author: H. Omran
Author: N. Schwerk
Author: S. Scigliano
Author: C. Werner
Author: P. Yiallouros
Author: Z. Zivkovic
Author: J.S. Lucas
Author: C.E. Kuehni

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