Breaking down the fences among registries on Autoinflammatory diseases: the E-Merge project

Abstract

Background. Between the various number of different AIDs, the absolute majority remains to be rare, with a single representative among big populations. Project, endorsed by PRES and supported by the EMERGE fellowship program, performed in line with the Metadata registry for the ERN RITA (MeRITA), had an objective to perform data harmonization attempt of the most relevant research questions regarding clinical features, diagnostic strategy, and optimal management of the autoinflammatory diseases. Results. Analysis of 3 large European registries: Eurofever, JIR-cohort, and AID-Net with total coverage of 7825 patients from 278 participating centers all over the world was performed in the context of the epidemiological and clinical data merging. Information summarized in the registries covers not only pediatric patients, but as well adults, with newly diagnosed AID. General aspects of the existing epidemiological data were discussed in the context of patient distribution around the world, potential diagnostic delay, access to genetic testing, and availability of the treatment. Conclusions. Overall work results indicate great potential for upcoming collaborative work using existing data in cohorts, which will definitely benefit the quality of medical care performed for patients with autoinflammatory diseases.