RT Journal Article
SR Electronic
T1 The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 450700
DO 10.1101/450700
A1 Goutaki Myrofora
A1 Eich Marc
A1 Florian S. Halbeisen
A1 Barben Juerg
A1 Casaulta Carmen
A1 Clarenbach Christian
A1 Gaudenz Hafen
A1 Latzin Philipp
A1 Regamey Nicolas
A1 Lazor Romain
A1 Tschanz Stefan
A1 Zanolari Maura
A1 Maurer Elisabeth
A1 Kuehni E. Claudia
A1 Swiss PCD Registry (CH-PCD) Working Group
YR 2018
UL http://biorxiv.org/content/early/2018/10/26/450700.abstract
AB Primary Ciliary Dyskinesia (PCD) is a rare hereditary, multi-organ disease caused by defects in ciliary structure and function. 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.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 hospitalizations.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 49 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.CH-PCD has proven to be a valuable research tool that already has highlighted weaknesses in PCD clinical practice in Switzerland. Development of centralised diagnostic and management centres and adherence to international guidelines are needed to improve diagnosis and management—particularly for adult PCD patients.