AutoInflammatory Disease Alliance Registry (AIDA)

Summary

Autoinflammatory diseases (AID) are clinical entities characterized by recurrent inflammatory attacks in absence of infection, neoplasm or deregulation of the adaptive immune system. Among them, hereditary periodic syndromes, also known as monogenic AID, represent the prototype of this disease group, caused by mutations in genes involved in the regulation of innate immunity, inflammation and cell death. Based on recent experimental acquisitions in the field of monogenic AID, several immunologic disorders have been reclassified as polygenic/multifactorial AID, sharing pathogenetic and clinical features with hereditary periodic fevers. This has paved the way to new treatment targets for patients suffering from rare diseases of unknown origin, including Behçet's disease, Still disease, Schnitzler's disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), non-infectious uveitis and scleritis. Gathering information on such rare conditions is made difficult by the small number of patients, along with the difficulty of obtaining an accurate diagnosis in non-specialized clinical settings. In this context, the AIDA project promotes international collaboration among clinical centres to develop a permanent registry aimed at collecting demographic, genetic, clinical and therapeutic data of patients affected by monogenic and polygenic AID, in order to expand the current knowledge of these rare conditions.

Eligibility

Inclusion Criteria:

* to be diagnosed with a monogenic AID according to the clinical phenotype and the detection of a confirmative genotype;
* to be diagnosed with clinical familial Mediterranean fever or Behçet's disease or Still disease or PFAPA syndrome or Schnitzler's disease or CRMO according to the corresponding clinical diagnostic and/or classification criteria;
* to be diagnosed with undifferentiated systemic AID;
* to be diagnosed with non-infectious uveitis according to the standardization for uveitis nomenclature (SUN) criteria;
* to be diagnosed with anterior or posterior non-infectious scleritis;
* to be diagnosed with spondyloarthritis according to ASAS and/or New York criteria;
* to be diagnosed with Castleman disease;

Exclusion Criteria:

\- informed consent/assent not provided by the patient and/or his/her legal representative.

Conditions12

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