Registries and collaborative studies for primary ciliary dyskinesia in Europe

Cristina Ardura-Garcia; Myrofora Goutaki; Siobhán B Carr; Suzanne Crowley; Florian S Halbeisen; Kim G Nielsen; Petra Pennekamp; Johanna Raidt; Guillaume Thouvenin; Panayiotis K Yiallouros; Heymut Omran; Claudia E Kuehni

doi:10.1183/23120541.00005-2020

Registries and collaborative studies for primary ciliary dyskinesia in Europe

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

Authors

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

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
² On behalf of the iPCD Cohort, Bern, Switzerland.
³ Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland.
⁴ Primary Ciliary Dyskinesia Centre, Dept of Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
⁵ On behalf of the English Paediatric PCD Management Service, London, UK.
⁶ Paediatric Dept of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway.
⁷ On behalf of the Norwegian PCD Registry, Oslo, Norway.
⁸ On behalf of the Swiss PCD Registry, Bern, Switzerland.
⁹ Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Copenhagen University Hospital, Copenhagen, Denmark.
¹⁰ On behalf of the Danish PCD Registry, Copenhagen, Denmark.
¹¹ Dept of General Pediatrics, University Hospital Muenster, Muenster, Germany.
¹² On behalf of the International PCD Registry Team, Muenster, Germany.
¹³ Service de Pneumologie Pédiatrique, Hôpital Trousseau AP-HP, Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, CRSA, Paris, France.
¹⁴ Inserm UMR S 933 RaDiCo-PCD, Paris, France.
¹⁵ On behalf of the French RaDiCo-PCD Cohort, Paris, France.
¹⁶ Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.
¹⁷ On behalf of the Cyprus PCD Registry, Nicosia, Cyprus.

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.

Publication types

Review