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Review
. 2020 May 26;6(2):00005-2020.
doi: 10.1183/23120541.00005-2020. eCollection 2020 Apr.

Registries and collaborative studies for primary ciliary dyskinesia in Europe

Cristina Ardura-Garcia  1   2 , Myrofora Goutaki  1   2   3 , Siobhán B Carr  4   5 , Suzanne Crowley  6   7 , Florian S Halbeisen  1   8 , Kim G Nielsen  9   10 , Petra Pennekamp  11   12 , Johanna Raidt  11   12 , Guillaume Thouvenin  13   14   15 , Panayiotis K Yiallouros  16   17 , Heymut Omran  11   12 , Claudia E Kuehni  1   2   3
Affiliations
Review

Registries and collaborative studies for primary ciliary dyskinesia in Europe

Cristina Ardura-Garcia et al. ERJ Open Res. .

Abstract

Primary ciliary dyskinesia (PCD) is a rare inherited disease characterised by malfunctioning cilia leading to a heterogeneous clinical phenotype with many organ systems affected. There is a lack of data on clinical presentation, prognosis and effectiveness of treatments, making it mandatory to improve the scientific evidence base. This article reviews the data resources that are available in Europe for clinical and epidemiological research in PCD, namely established national PCD registries and national cohort studies, plus two large collaborative efforts (the international PCD (iPCD) Cohort and the International PCD Registry), and discusses their strengths, limitations and perspectives. Denmark, Cyprus, Norway and Switzerland have national population-based registries, while England and France conduct multicentre cohort studies. Based on the data contained in these registries, the prevalence of diagnosed PCD is 3-7 per 100 000 in children and 0.2-6 per 100 000 in adults. All registries, together with other studies from Europe and beyond, contribute to the iPCD Cohort, a collaborative study including data from over 4000 PCD patients, and to the International PCD Registry, which is part of the ERN (European Reference Network)-LUNG network. This rich resource of readily available, standardised and contemporaneous data will allow obtaining fast answers to emerging clinical and research questions in PCD.

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Conflict of interest statement

Conflict of interest: C. Ardura-Garcia has nothing to disclose. Conflict of interest: M. Goutaki has nothing to disclose. Conflict of interest: S.B. Carr reports service on an advisory board for, a lecture fee from, travel support from and service on a steering committee for Vertex Pharmaceuticals; service on an advisory board for Profile Pharmaceuticals; lecture fees from Teva Pharmaceuticals; service on an advisory board for, and travel and accommodation support from Chiesi Pharmaceuticals, all outside the submitted work. Conflict of interest: S. Crowley has nothing to disclose. Conflict of interest: F.S. Halbeisen has nothing to disclose. Conflict of interest: K.G. Nielsen has nothing to disclose. Conflict of interest: P. Pennekamp has nothing to disclose. Conflict of interest: J. Raidt has nothing to disclose. Conflict of interest: G. Thouvenin has nothing to disclose. Conflict of interest: P.K. Yiallouros has nothing to disclose. Conflict of interest: H. Omran has nothing to disclose. Conflict of interest: C.E. Kuehni has nothing to disclose.

Figures

FIGURE 1
FIGURE 1
Countries in Europe with established national population-based registries or multicentre cohort studies and data flow between them and the international primary ciliary dyskinesia (iPCD) Cohort and the International PCD Registry. Yellow ovals: clinical cohorts; green ovals: population-based registries; black continuous lines: data contribution; black dashed lines: data sharing and collaborations; black stars: other European countries that contribute data to the International PCD Registry; black circles: other European countries that contribute data to the iPCD Cohort.
See this image and copyright information in PMC

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