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Extended report
An International registry on Autoinflammatory diseases: the Eurofever experience
  1. Natasa Toplak1,
  2. Joost Frenkel2,
  3. Seza Ozen3,
  4. Helen J Lachmann4,
  5. Patricia Woo5,
  6. Isabelle Koné-Paut6,
  7. Fabrizio De Benedetti7,
  8. Benedicte Neven8,
  9. Michael Hofer9,
  10. Pavla Dolezalova10,
  11. Jasmin Kümmerle-Deschner11,
  12. Isabelle Touitou12,
  13. Veronique Hentgen13,
  14. Anna Simon14,
  15. Herman Girschick15,
  16. Carlos Rose16,
  17. Carine Wouters17,
  18. Richard Vesely18,
  19. Juan Arostegui19,
  20. Silvia Stojanov20,
  21. Huri Ozgodan21,
  22. Alberto Martini22,
  23. Nicolino Ruperto23,
  24. Marco Gattorno23,
  25. for the Paediatric Rheumatology International Trials Organisation (PRINTO), Eurotraps and Eurofever Projects
  1. 1Department of Paediatrics, Division of Allergology, Rheumatology and Clinical Immunology, University Medical Centre Ljubljana, Ljubljana, Slovenia
  2. 2Department of Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands
  3. 3Department of Pediatric Nephrology and Rheumatology, Hacettepe University Children's Hospital, Ankara, Turkey
  4. 4Division of Medicine, University College London Medical School, Royal Free Campus, London, UK
  5. 5Center of Paediatric and Adolescent Rheumatology – UCL, Great Ormond Street Children Hospital, London, UK
  6. 6Pediatric rheumatology and CEREMAI, Bicêtre hospital, University of Paris Sud, Bicetre, France
  7. 7Pediatric Rheumatology Unit, Bambino Gesù Children's Hospital, Rome, Italy
  8. 8Department of Pediatric Immunology and Rheumatology, Necker Hospital, Paris, France
  9. 9Department of Paediatrics, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, and Hôpitaux Universitaires, Geneva, Switzerland
  10. 10Department of Pediatrics and Adolescent Medicine, Charles University in Prague and General University Hospital, Praha, Czech Republic
  11. 11Division of Pediatric Rheumatology, Department of Pediatrics, University Children's Hospital Tübingen, Tübingen, Germany
  12. 12Medical Unit for AutoInflammatory diseases, Hôpital Arnaud de Villeneuve, Montpellier, France
  13. 13Departement of pediatrics, Hôpital Mignot, Le Chesnay, France
  14. 14Department of General Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
  15. 15Department of Pediatrics, Clinic for Pediatric and Adolescent Medicine, Vivantes Klinikum im Friedrichshain, Berlin, Germany
  16. 16Divison of Rheumatology, DuPont Children's Hospital, Thomas Jefferson University, Wilmington, Delaware, USA
  17. 17Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Gasthuisberg, Leuven, Belgium
  18. 18Department of Paediatrics, Detska Fakultna Nemocnica, Kosice, Slovakia
  19. 19Immunology Department. CDB. Hospital Clínic/IDIBAPS, Barcelona, Spain
  20. 20Department of Infectious Diseases and Immunology, University Children's Hospital, Munich, Germany
  21. 21Division of Rheumatology, Cerrahpasa Medical Faculty Medicine, Istanbul, Turkey
  22. 22Pediatria II, Reumatologia, IRCCS Istituto G Gaslini, Università di Genova, Genova, Italy
  23. 23Pediatria II, Reumatologia, IRCCS Istituto G Gaslini, Genova, Italy
  1. Correspondence to Marco Gattorno, Pediatria II, Reumatologia, IRCCS Istituto G Gaslini, Università di Genova 5, 16147, Genova, Italy; marcogattorno{at}ospedale-gaslini.ge.it

Abstract

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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Footnotes

  • 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.

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