Primary ciliary dyskinesia (PCD) is a rare genetic disease affecting approximately 1:10,000. Cilia that line the respiratory tract are dysfunctional and cannot clear mucus properly leading to progressive upper and lower airway disease, including bronchiectasis, hearing impairment and chronic sinusitis. Cilia are common structures throughout the body, so PCD may affect other organs, for example leading to situs inversus, congenital heart defects or infertility. Mutations in 30 different genes have been identified to date, accounting for approximately 60% of PCD. The clinical picture is very heterogeneous, and as for other rare diseases data on the natural course, phenotypic variability, associations with genotype, and effectiveness of treatments of PCD are scarce. Strategies to manage PCD are derived from other diseases, and are controversial. Scientists,
clinicians, allied health professionals and patient representatives unite in this Action, providing a platform for communication and exchange. The Action will facilitate PCD-related research to identify mechanisms, study disease patterns and progression, define outcome measures, improve clinical management and identify high priority therapies. This Action is a platform for preclinical studies that will lead to clinical trials.
primary ciliary dyskinesia - outcome measures - in vivo models - clinical trials - molecular therapy
