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 Fra

SUBMITTER: Ardura-Garcia C 

PROVIDER: S-EPMC7248350 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature