Objective To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project.
Methods A web-based registry collecting baseline and clinical information on autoinflammatory diseases and related conditions is available in the member area of the PRINTO web-site. Anonymised data were collected with standardised forms.
Results 1880 (M:F=916:964) individuals from 67 centers in 31 countries have been entered in the Eurofever registry. Most of the patients (1388; 74%), reside in western Europe, 294 (16%) in the eastern and southern Mediterranean region (Turkey, Israel, North Africa), 106 (6%) in eastern Europe, 54 in Asia, 27 in South America and 11 in Australia. In total 1049 patients with a clinical diagnosis of a monogenic autoinflammatory diseases have been enrolled; genetic analysis was performed in 993 patients (95%): 703 patients have genetically confirmed disease and 197 patients are heterozygous carriers of mutations in genes that are mutated in patients with recessively inherited autoinflammatory diseases. The median diagnosis delay was 7.3 years (range 0.3–76), with a clear reduction in patients born after the identification of the first gene associated with autoinflammatory diseases in 1997.
Conclusions A shared online registry for patients with autoinflammatory diseases is available and enrollment is ongoing. Currently, there are data available for analysis on clinical presentation, disease course, and response to treatment, and to perform large scale comparative studies between different conditions.
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Funding This project is supported by Executive Agency for Health and Consumers of European Union (EAHC, Project No2007332, Eurofever) and through Coordination Theme 1 (Health) of the European Community's FP7, Grant agreement number HEALTH-F2-2008-200923 (Eurotraps). Unrestricted educational grants were also kindly provided by PRINTO and Novartis.
Correction notice This article has been corrected since it was published Online First. The following statement was added at the end of the author list: for Paediatric Rheumatology International Trials Organisation (PRINTO), Eurotraps and Eurofever Projects.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.