Why do we need a Registry for Autoinflammatory diseases?

The main limitation to a better knowledge of these rare conditions is related to the extreme fragmentation of the diagnosed cases that are spread over different centers and countries.
Children are usually referred to the centers of Pediatric Rheumatology that have the proper expertise for the diagnosis and care of patients with chronic inflammatory conditions. Adult patients are followed by few specialized national referral Centers
The main aim of a registry for Autoinflammatory disease is to link together all the European centers that follow  diagnosed or suspected patients with Autoinflammatory diseases under the supervision of experts for each disorder. Non-European centers willing to participate to the registry will be of course welcome.  

A single registry or a network of registries?

Autoinflammatory diseases are an expanding family of different conditions.  However, a considerable degree of overlap in their etiology, clinical manifestations and management is present. For this reason we decided to set-up a single Registry for the study of the Autoinflammatory diseases. This will allow to compare the clinical manifestations occurring in each disease, include patients with uncertain classification (for example carriers of mutations in more than one gene), and provide a single strategy and a unique form for data collection.

Aims of the Eurofever Registry

Primary goal: to collect information on the clinical presentation, outcome and response to treatment of patients affected by the major Autoinflammatory diseases.
Secondary goals:

1. to provide evidence-based classification criteria for the Autoinflammatory diseases lacking a precise genetic characterization;
2. to develop guidelines to justify a genetic testing for each disease;
3. to create a permanent network of Centres dealing with patients affected by Autoinflammatory diseases for future clinical, pathogenic, genetic and therapeutic studies;
4. to identify informative families or of clusters of  genetically negative patients for possible future genetic studies;
5. to establish baseline cohort for future outcome studies.

How we built the Registry

In the first step, different experts for each disease were asked to identify the variables of interest for each condition (personal data, clinical manifestations, response to treatment, etc). In a second step, a first draft of a unique form for data collection was sent to all the experts for their comments. Further revisions of the forms were subsequently evaluated by the experts for their further comments. 

During the first step, 143 different clinical manifestations or symptoms were identified by the different experts for each disease. Five main items were considered i) baseline information, ii) clinical manifestations, iii) laboratory examinations,  iv) imaging and other diagnostic procedures,     v) response to treatment. Data on the frequency of each clinical variable will be also collected for diseases  with either a chronic or recurrent course The clinical manifestations were subdivided according to systems or apparatus (skin, gastrointestinal, respiratory, etc). After 3 rounds of comments and a Consensus conference, 123 clinical variables have been selected..

The forms for the Registry for the collection of patients with Autoinflammatory disease are now available in the PRINTO member area (www.printo.it) and the enrolment has just started!

Good work!

 

Note: If you are not a member of the PRINTO network and wish to have more information on the Registry or other initiatives linked to the Eurofever Project, please write to marcogattorno@gaslini.org (Disease PI: Marco Gattorno) or  to printo@gaslini.org (Research Assistant: Eugenia Mosci)