Within 18 months of its launch, almost 2,000 people were enrolled in a new, international online registry for rare autoinflammatory diseases designed to facilitate research and treatment, as well as increase awareness of the conditions.
The registry, called Eurofever and launched in November 2009 with the support of the Executive Agency for Health and Consumers of the European Union (EAHC), includes demographic, clinical, and genetic information on people who have developed familial Mediterranean fever, tumor necrosis factor receptor–associated periodic syndrome (TRAPS), mevalonate kinase deficiency, Behçet’s disease, and other conditions, more than 10 in all. Enrollment is ongoing, and new autoinflammatory conditions will be added as they are recognized.
The Eurofever registry is "available for analysis on clinical presentation, disease course, and response to treatment, and to perform large-scale comparative studies between different conditions," according to its founders. It can be accessed in the member area of the Pediatric Rheumatology International Trial Organisation (PRINTO) website. Enrollment information is on the registry’s website.
The goal of the efforts is to counteract "a major limitation to understanding these rare conditions[,] the fragmentation of clinical experience with very few centers in any country caring for more than a handful of cases," according to principal investigator and pediatric rheumatologist Marco Gattorno of the University of Genoa (Italy) and his associates. The investigators solicited enrollment from pediatric and adult centers known to have an interest in rare autoinflammatory diseases (Ann. Rheum. Dis. 2012 Feb. 29 [doi: 10.1136/annrheumdis-2011-200549]).
So far, the registry includes 916 males and 964 females from 67 centers in 31 countries. Three-quarters are under 18 years of age, consistent with the fact that the conditions tend to present in childhood. Three-quarters also reside in Western Europe; 16% in Turkey, Israel, or North Africa; 6% in Eastern Europe, and the rest in Asia, South America, and Australia.
Although North America and many South American and Asian countries "are not yet covered by the registry, the large number of patients recruited in this first period of the project and the wide geographical distribution is very encouraging and suggests that the network can continue to grow," Dr. Gattorno and his colleagues noted.
The efforts are already paying off. An analysis of registry data resulted in identification of three previously unreported mutations for TRAPS, four for mevalonate kinase deficiency, and two for cryopyrin associated periodic syndromes.
The investigators found that physicians are making the diagnosis more quickly. Although the median delay between disease onset and diagnosis was 7.3 years, there is a "trend towards shorter diagnostic delay in patients born" in the current century – 1.4 years for familial Mediterranean fever, for instance – robably "due to the fact that many of these diseases are recently recognized clinical entities and that genetic diagnosis has ...become relatively widely available in the last few years," they noted.
Even so, "the marked bias towards Western Europe," where there are relatively large number of centers with facilities for genetic analysis, may suggest that recognition remains a problem elsewhere, they noted.*
The EAHC is funding the project, along with PRINTO, Novartis, and the Seventh Framework Programme (2007–2013) of the European Community for Research, Technological Development, and Demonstration Activities.
The authors said they had no relevant financial disclosures.
*CORRECTION: 03/12/2012 An earlier version of this story misstated the number of specialty centers with facilities for genetic analysis.