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. 2023 Jul 17;18(1):191.
doi: 10.1186/s13023-023-02812-4.

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

Y Vyzhga  1 , V Hentgen  2 , R Caorsi  3 , H Wittkowski  4 , M Hofer  5   6 , N Ruperto  7 , E Lainka  8 , K Theodoropoulou  5 , D Foell  4 , E Mosci  7 , M Gattorno  3 ; AID-Net, Eurofever, JIRcohort registriesthe Paediatric Rheumatology International Trials Organisation (PRINTO)
Affiliations

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

Y Vyzhga et al. Orphanet J Rare Dis. .

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.

Keywords: AID-Net; Autoinflammatory diseases; Disease registry; Eurofever; JIR-cohort.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Overview of centres participating in Eurofever, JIRcohort and AID-Net. *Marked red—centres participating in Eurofever. Marked blue—centres participating in JIRcohort. Marked green —centres participating in AID-Net. Textboxes colored orange—potential overlap between the patients in different registries
Fig. 2
Fig. 2
Diagnostic delay (years) in patients with autoinflammatory diseases in general cohort, children and adults throughout the registries
See this image and copyright information in PMC

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