Abstract

Background

Among the various numbers of different autoinflammatory diseases (AIDs), the absolute majority of them remains rare, with a single representative in large populations. This project, endorsed by PRES, supported by the EMERGE fellowship program, and performed in line with the Metadata registry for the ERN RITA (MeRITA), has the objective of performing a data synchronization attempt of the most relevant research questions regarding clinical features, diagnostic strategies, and optimal management of autoinflammatory diseases.

Results

An analysis of three large European registries: Eurofever, JIR-cohort and AID-Net, with a total coverage of 7825 patients from 278 participating centers from different countries, was performed in the context of epidemiological and clinical data merging. The data collected and evaluated in the registries does not cover only pediatric patients, but also adults with newly diagnosed AIDs. General aspects of the existing epidemiological data have been discussed in the context of patient global distribution, potential diagnostic delays, access to genetic testing, and the availability of the treatment.

Conclusions

In general, the results indicate a great potential for upcoming collaborative work using existing data in cohorts that enhance the quality of medical care performed for patients with autoinflammatory diseases.

Details

Title
Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project
Author
Vyzhga, Y; Hentgen, V; Caorsi, R; Wittkowski, H; Hofer, M; Ruperto, N; Lainka, E; Theodoropoulou, K; Foell, D; Mosci, E; Gattorno, M
Pages
1-11
Section
Research
Publication year
2023
Publication date
2023
Publisher
BioMed Central
e-ISSN
17501172
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2838788487
Copyright
© 2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.