Primary Ciliary Dyskinesia (PCD) is a rare, genetically heterogeneous disorder that affects approximately 1 in 20,000 individuals. It results from dysfunction of small hair-like organelles (cilia), which are responsible to clean our upper and lower airways. It causes severe, chronic destructive airway disease with progressive loss of lung function. Additional health burden results from chronic ENT problems impairing hearing. In addition many other organ systems such as the cardiovascular (congenital heart defects) and reproductive system (infertility) can be affected.
There is now a now a critical need for observational trials as well as randomised controlled trials to put evidence-based diagnostic and treatment approaches for PCD into effect.
The main goal of BESTCILIA is to characterize the clinical course and improve the diagnosis and treatment of PCD patients.
In Europe, there are marked discrepancies between countries in the availability of PCD diagnostic services. Thus, in order to fulfil the aim to improve clinical practice in PCD care, we will generate standard operation procedures (SOPs) and introduce standardized diagnostic testing in countries where this is not available at the moment. In other genetic disorders, the diagnosis can be established using genetics exclusively. However, due to extensive genetic heterogeneity, only ~50% of PCD cases can currently be determined by large-scale DNA sequencing efforts. Thus, additional studies must first identify the majority of genetic defects before this method can be useful as a routine diagnostic tool. In our proposal, we will evaluate the whole spectrum of PCD diagnostics recommended by the ERS PCD task force: nasal NO (nNO) measurement, high speed videomicroscopy (HVM), transmission electron microscopy (TEM) and even high resolution immunofluorescence (IF) microscopy in difficult cases. We therefore will be able to achieve the highest diagnostic standard. Our results will aid the implementation of state-of-the-art diagnostic standards in Europe and the USA.
BESTCILIA has been designed in close consultation with patient organizations, notably the Dutch, German, Swiss, Polish and US American patient support groups assuring that the patient perspective is considered in all aspects of our project.
This project has received funding from the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement n° 305404 (BESTCILIA).