International Primary Ciliary Dyskinesia Cohort

Kartagener Syndrome, Primary Ciliary Dyskinesia

The iPCD Cohort is an international cohort that assembles available retrospective datasets and prospectively newly collected clinical and diagnostic data from patients suffering from primary ciliary dyskinesia (PCD) worldwide, to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments in patients with this rare multiorgan disease.

The iPCD Cohort was set up under the framework of the European Union (EU) funded 7th Framework Programme (FP7) project Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia (BESTCILIA). The iPCD Cohort is hosted at the Institute of Social and Preventive Medicine at the University of Bern, Switzerland. Research is performed in close collaboration with all data contributors. Aims: This combined international dataset allows investigation of PCD epidemiology in a large international study population in order to: 1) describe the spectrum of clinical phenotypes and disease severity in PCD patients by age, sex and time period of diagnosis; 2) describe short-term and long-term prognosis of PCD, looking at important outcomes such as growth, lung function and respiratory failure, bacterial colonisation, hearing loss, fertility, and mortality; and 3) identify predictors of long-term outcomes such as age at diagnosis, clinical phenotype, ultrastructural defects, genotype and clinical care. Study design: The iPCD Cohort is an international cohort, combining available data on PCD from national or local registries and clinical or diagnostic databases. All participating centres delivered retrospectively collected data; new centres joining the iPCD Cohort in the future can also participate with retrospectively and prospectively collected data. What information is collected: The iPCD Cohort includes retrospectively collected patient data on the following 11 thematic categories: 1) general information, 2) results of diagnostic tests, 3) baseline characteristics, 4) growth and lung function, 5) clinical manifestations, 6) therapy, 7) microbiology, 8) imaging, 9) surgical interventions, 10) neonatal period, and 11) family history. Study database: The iPCD Cohort database is web-based, using the Research Electronic Data Capture (REDCap) platform developed at Vanderbilt University. REDCap is widely used in academic research and allows data entry and extraction in various formats. How to participate: Centres that wish to participate to the project and contribute data can contact the iPCD Cohort to sign a data delivery agreement. They then will receive a password to access the online software REDCap and they will be able to enter their data directly. They can also upload follow-up data or add additional patients at a later time point. For further details, contact: pcd@ispm.unibe.ch Funding: The setting up of the iPCD Cohort (salaries, consumables and equipment) was funded by the EU FP7 project BESTCILIA (http://bestcilia.eu) and several Swiss funding bodies, including the Lung Leagues of Bern, St Gallen, Vaud, Ticino and Valais and the Milena Carvajal Pro-Kartagener Foundation. Data collection and management at each site was funded according to local arrangements. Most participating researchers and data contributors participate in the European Cooperation in Science and Technology (COST) Action Better Evidence to Advance Therapeutic options for PCD (BEAT-PCD) (BM 1407; www.beatpcd.org). Infrastructure is provided for free by the University of Bern, where the data are pooled and stored. The study is currently funded by the Swiss National Science Foundation (320030\_173044 and 320030B\_192804).

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