Registries and collaborative studies for primary ciliary dyskinesia in Europe.

Ardura-Garcia, Cristina; Goutaki, Myrofora; Carr, Siobhán B; Crowley, Suzanne; Halbeisen, Florian S.; Nielsen, Kim G; Pennekamp, Petra; Raidt, Johanna; Thouvenin, Guillaume; Yiallouros, Panayiotis K; Omran, Heymut; Kuehni, Claudia E. (2020). Registries and collaborative studies for primary ciliary dyskinesia in Europe. ERJ Open Research, 6(2), 00005-2020. European Respiratory Society 10.1183/23120541.00005-2020

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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.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)

UniBE Contributor:

Ardura Garcia, Cristina; Goutaki, Myrofora; Halbeisen, Florian Samuel and Kühni, Claudia

Subjects:

600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

2312-0541

Publisher:

European Respiratory Society

Funders:

[4] Swiss National Science Foundation

Language:

English

Submitter:

Andrea Flükiger-Flückiger

Date Deposited:

10 Jun 2020 11:19

Last Modified:

25 Jun 2020 14:19

Publisher DOI:

10.1183/23120541.00005-2020

PubMed ID:

32494577

BORIS DOI:

10.7892/boris.144565

URI:

https://boris.unibe.ch/id/eprint/144565

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