Observational Study

. 2017 Jan 4;49(1):1601181.

doi: 10.1183/13993003.01181-2016. Print 2017 Jan.

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

Myrofora Goutaki^{1

2}, Elisabeth Maurer¹, Florian S Halbeisen¹, Israel Amirav³, Angelo Barbato, Laura Behan⁴, Mieke Boon⁵, Carmen Casaulta, Annick Clement, Suzanne Crowley⁶, Eric Haarman⁷, Claire Hogg⁸, Bulent Karadag⁹, Cordula Koerner-Rettberg¹⁰, Margaret W Leigh, Michael R Loebinger¹¹, Henryk Mazurek¹², Lucy Morgan¹³, Kim G Nielsen¹⁴, Heymut Omran¹⁵, Nicolaus Schwerk¹⁶, Sergio Scigliano¹⁷, Claudius Werner¹⁵, Panayiotis Yiallouros¹⁸, Zorica Zivkovic^{19

20}, Jane S Lucas⁴, Claudia E Kuehni²¹; PCD Italian Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases; Genetic Disorders of Mucociliary Clearance Consortium

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
² Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
³ Dept of Pediatrics, Faculty of Medicine, Bar IIan University, Ramat Gan, Israel.
⁴ Primary Ciliary Dyskinesia Centre, NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁵ Dept of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
⁶ Unit for Paediatric Heart, Lung and Allergic Diseases, Rikshospitalet, Oslo, Norway.
⁷ Dept of Pediatric Pulmonology, VU University Medical Center, Amsterdam, The Netherlands.
⁸ Dept of Paediatrics, Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Foundation Trust, London, UK.
⁹ Dept of Paediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey.
¹⁰ Dept of Paediatric Pneumology, University Children's Hospital of Ruhr University Bochum, Bochum, Germany.
¹¹ Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
¹² Dept of Pneumonology and Cystic Fibrosis, Institute of Tuberculosis and Lung Disorders, Rabka-Zdrój, Poland.
¹³ Dept of Respiratory Medicine, Concord Hospital Clinical School, University of Sydney, Sydney, Australia.
¹⁴ Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Copenhagen University Hospital, Copenhagen, Denmark.
¹⁵ Dept of General Paediatrics and Adolescent Medicine, University Hospital Muenster, Muenster, Germany.
¹⁶ Clinic for Paediatric Pulmonology, Allergiology and Neonatology, Hannover Medical School, Hannover, Germany.
¹⁷ Centro Respiratorio, Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina.
¹⁸ Medical School, University of Cyprus, Nicosia, Cyprus.
¹⁹ Children's Hospital for Lung Diseases and TB, Medical Centre "Dr Dragisa Misovic", Belgrade, Serbia.
²⁰ Faculty of Pharmacy, University Business Academy, Novi Sad, Serbia.
²¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland claudia.kuehni@ispm.unibe.ch.

PMID: 28052956
PMCID: PMC5298195
DOI: 10.1183/13993003.01181-2016

Observational Study

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

Myrofora Goutaki et al. Eur Respir J. 2017.

. 2017 Jan 4;49(1):1601181.

doi: 10.1183/13993003.01181-2016. Print 2017 Jan.

Authors

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
² Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
³ Dept of Pediatrics, Faculty of Medicine, Bar IIan University, Ramat Gan, Israel.
⁴ Primary Ciliary Dyskinesia Centre, NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁵ Dept of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
⁶ Unit for Paediatric Heart, Lung and Allergic Diseases, Rikshospitalet, Oslo, Norway.
⁷ Dept of Pediatric Pulmonology, VU University Medical Center, Amsterdam, The Netherlands.
⁸ Dept of Paediatrics, Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Foundation Trust, London, UK.
⁹ Dept of Paediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey.
¹⁰ Dept of Paediatric Pneumology, University Children's Hospital of Ruhr University Bochum, Bochum, Germany.
¹¹ Host Defence Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK.
¹² Dept of Pneumonology and Cystic Fibrosis, Institute of Tuberculosis and Lung Disorders, Rabka-Zdrój, Poland.
¹³ Dept of Respiratory Medicine, Concord Hospital Clinical School, University of Sydney, Sydney, Australia.
¹⁴ Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Copenhagen University Hospital, Copenhagen, Denmark.
¹⁵ Dept of General Paediatrics and Adolescent Medicine, University Hospital Muenster, Muenster, Germany.
¹⁶ Clinic for Paediatric Pulmonology, Allergiology and Neonatology, Hannover Medical School, Hannover, Germany.
¹⁷ Centro Respiratorio, Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina.
¹⁸ Medical School, University of Cyprus, Nicosia, Cyprus.
¹⁹ Children's Hospital for Lung Diseases and TB, Medical Centre "Dr Dragisa Misovic", Belgrade, Serbia.
²⁰ Faculty of Pharmacy, University Business Academy, Novi Sad, Serbia.
²¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland claudia.kuehni@ispm.unibe.ch.

PMID: 28052956
PMCID: PMC5298195
DOI: 10.1183/13993003.01181-2016

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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Conflict of interest statement

can be found alongside this article at erj.ersjournals.com

Figures

**FIGURE 1**
Countries contributing data to the international primary ciliary dyskinesia cohort (iPCD Cohort). The circle size reflects the size of the dataset and the shades of grey reflect the data richness (semiquantitative measure based on the number of delivered variables).

**FIGURE 2**
Age distribution of 3013 primary ciliary dyskinesia (PCD) patients included in the international PCD cohort (iPCD Cohort), stratified by sex: a) male and b) female (April 2016).

See this image and copyright information in PMC

Comment in

The time is right for an international primary ciliary dyskinesia disease registry.
Haver K. Haver K. Eur Respir J. 2017 Jan 4;49(1):1602143. doi: 10.1183/13993003.02143-2016. Print 2017 Jan. Eur Respir J. 2017. PMID: 28052961 No abstract available.
The time is right for an international PCD disease registry: insight and ongoing research activities.
Goutaki M, Halbeisen FS, Kuehni CE. Goutaki M, et al. Eur Respir J. 2017 Jun 8;49(6):1700357. doi: 10.1183/13993003.00357-2017. Print 2017 Jun. Eur Respir J. 2017. PMID: 28596427 No abstract available.

References

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

Comment in

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Miscellaneous