Registries and collaborative studies for primary ciliary dyskinesia in Europe

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.

Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence

“…Cyprus has the highest prevalence of PCD among the existing national population‐based registries in Europe, with 7.4 cases per 100,000 in <20‐year olds (Ardura‐Garcia et al, 2020). Our data expand the genetic landscape and mutation spectrum of PCD by identifying 12 previously unrecognized variants, which make 50% of all the pathogenic variants identified in the Cyprus cohort.…”

“…Its prevalence has been estimated as 1 in 10,000 to 1 in 20,000, although it can be higher in populations with a high consanguinity rate (O'Callaghan et al, 2010; Onoufriadis et al, 2013). Cyprus has reportedly the highest prevalence of PCD cases amongst all European countries detected after a vigorous search through an extensive network of referring physicians (Ardura‐Garcia et al, 2020; Kuehni et al, 2010), but the genetic epidemiology of the disease in the country is to date unknown.…”

Primary Ciliary Dyskinesia

“…9,10 It is currently unclear whether this reflects true disease prevalence or diagnostics practices. 11 There is a significantly higher incidence in isolated populations or populations where consanguinity is common, for example, the Dutch Volendam population have a very high prevalence (> 1:400) and certain British Asian populations (¼ 1:2,000) due to high levels of consanguinity. 12,13 Unlike other causes of bronchiectasis where there is a female predominance, throughout, PCD effects males and females equally.…”

COVID-PCD: a participatory research study on the impact of COVID-19 in people with primary ciliary dyskinesia

“…We do not know how SARS-CoV-2 affects people with PCD and whether severity of PCD, age, and other patient characteristics influence disease course. PCD registries and research databases are not designed for a longitudinal collection of patient-reported information on symptoms and health behaviour in real time (20). However, such data are needed to comprehensively understand the impact of SARS-CoV-2 on people with PCD.…”