Primary ciliary dyskinesia – under trial
PCD is a genetically heterogeneous disorder that stems from the dysfunction of multiple motile cilia present on airway cells. It causes severe, chronic destructive airway disease with progressive loss of lung function. Currently, the lack of evidence-based knowledge hampers disease diagnosis and management. The requirement for multiple diagnostic tests and specialised personnel causes PCD to be often unrecognised or diagnosed too late. To address this, the EU-funded BESTCILIA(opens in new window) (Better experimental screening and treatment for primary ciliary dyskinesia) project initially established an international prospective PCD registry(opens in new window) for systematic data collection on incidence, clinical presentation, treatments and course of the disease. This contains information of over 400 patients and constitutes the basis for clinical and translational research in PCD globally. An observational trial on the clinical phenotype, severity, prognosis and effect of treatments on PCD was performed. Results showed that growth, weight and lung function had to be included as relevant criteria for disease progression in PCD follow up as well as for estimating treatment success. To monitor disease progression and evaluate new treatments, the consortium additionally invested on health-related quality of life (HRQoL) measures. They developed and harmonised novel paediatric PCD-specific HRQoL instruments in North America and Europe for clinical trials. Furthermore, improved diagnostic tests for PCD were developed and implemented in healthcare centres across Europe. This led to a 21 % increase in the diagnosis of PCD, validating the urgent need for novel diagnostic solutions. From a therapeutic perspective, the consortium performed the first ever multi-centre randomised controlled clinical trial on the use of azithromycin in PCD. Collectively, the activities of the BESTCILIA study raised awareness of PCD on different levels and formed the basis for future research and clinical studies. The generated diagnostic tools have already assisted in prompt diagnosis and will hence contribute to better clinical care of PCD patients.