Primary Ciliary Dyskinesia (PCD) is mainly a lung disease: a rare, genetically heterogeneous disorder resulting from dysfunction of small hair-like organelles (cilia) that clean the upper and lower airways. It can also affect multiple organs beside the respiratory system, and may cause serious impairment and lower quality of life. Its prevalence is estimated to be about 1 in 16,000.
As other orphan diseases, PCD is rarely studied and the relatively small numbers of PCD patients in each country make it difficult to collect reliable data on epidemiology, clinical course throughout life or the long-term prognosis. Small patient population makes it also difficult to collect enough patients for effective clinical trials. Epidemiological data and clinical trials could speed up the diagnosis and improve PCD treatment, thus reducing morbidity and mortality and lowering health care costs.
BESTCILIA project has been started in December 2012. The largest international research programme on PCD was designed in close collaboration with PCD patient support groups from several countries and includes partners from 11 countries across the world.
The main goal of the programme is to improve screening and treatment of PCD. This will be achieved through several actions, including organization of the first randomized controlled clinical trial on the use of azithromycin in PCD and introduction of standardized diagnostic testing for PCD in few European countries, where it is currently not fully available. The programme will also establish international prospective registry of PCD patients and prepare field for future studies on PCD.