AutoInflammatory Disease Alliance Registry (AIDA)

MI-összefoglaló

A vizsgálat saját részvételi feltételeiből. Gép olvasta ki az oldalon álló regiszterszövegből, ezért tévedhet. Hogy ki vehet részt, azt a lenti regiszterszöveg és a vizsgálat csapata dönti el.

This registry collects health, genetic and treatment data on people with autoinflammatory diseases. These are diseases with repeated bouts of inflammation without infection. The registry does not give any treatment.

Nem

All sexes can join.

A betegség stádiuma

People can join with any of these: a monogenic (single-gene) autoinflammatory disease, familial Mediterranean fever, Behçet's disease, Still disease, PFAPA syndrome, Schnitzler's disease, CRMO, undifferentiated systemic autoinflammatory disease, non-infectious uveitis (SUN criteria), anterior or posterior non-infectious scleritis, spondyloarthritis (ASAS and/or New York criteria), or Castleman disease.

Biomarker vagy leletérték

For a monogenic autoinflammatory disease, a gene test must confirm the diagnosis.

A részvétel fő kizáró okai

• The patient or their legal representative has not given informed consent or assent.

A regiszter feltételei, szó szerint

Mit akar kideríteni a vizsgálat

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.

A vizsgálat csoportja

• Patients affected by autoinflammatory diseases

  Kezelés: No intervention is foreseen by the protocol.