@article{Goutaki_Eich_Halbeisen_Barben_Casaulta_Clarenbach_Hafen_Latzin_Regamey_Lazor_Tschanz_Zanolari_Maurer_Kuehni_for the Swiss PCD Registry (CH-PCD) Working Group_2019, title={The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results}, volume={149}, url={https://smw.ch/index.php/smw/article/view/2562}, DOI={10.57187/smw.2019.20004}, abstractNote={<p><p>Primary ciliary dyskinesia (PCD) is a rare, hereditary, multiorgan disease caused by defects in the structure and function of motile cilia. It results in a wide range of clinical manifestations, most commonly in the upper and lower airways. Central data collection in national and international registries is essential to studying the epidemiology of rare diseases and filling in gaps in knowledge of diseases such as PCD. For this reason, the Swiss Primary Ciliary Dyskinesia Registry (CH-PCD) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. We describe the objectives and methodology of the CH-PCD, present initial results, and give an overview of current and ongoing projects.</p> <p>The registry records patients of any age, suffering from PCD, who are treated and resident in Switzerland. It collects information from patients identified through physicians, diagnostic facilities and patient organisations. The registry dataset contains data on diagnostic evaluations, lung function, microbiology and imaging, symptoms, treatments and hospitalisations.</p> <p>By May 2018, CH-PCD has contacted 566 physicians of different specialties and identified 134 patients with PCD. At present, this number represents an overall 1 in 63,000 prevalence of people diagnosed with PCD in Switzerland. Prevalence differs by age and region; it is highest in children and adults younger than 30 years, and in Espace Mittelland. The median age of patients in the registry is 25 years (range 5–73), and 41 patients have a definite PCD diagnosis based on recent international guidelines. Data from CH-PCD are contributed to international collaborative studies and the registry facilitates patient identification for nested studies.</p> <p>CH-PCD has proven to be a valuable research tool that already has highlighted weaknesses in PCD clinical practice in Switzerland.</p> <strong>Trial registration number</strong> <p>NCT03606200</p></p>}, number={0102}, journal={Swiss Medical Weekly}, author={Goutaki, Myrofora and Eich, Marc O. and Halbeisen, Florian S. and Barben, Juerg and Casaulta, Carmen and Clarenbach, Christian and Hafen, Gaudenz and Latzin, Philipp and Regamey, Nicolas and Lazor, Romain and Tschanz, Stefan and Zanolari, Maura and Maurer, Elisabeth and Kuehni, Claudia E. and for the Swiss PCD Registry (CH-PCD) Working Group}, year={2019}, month={Jan.}, pages={w20004} }