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Aurora magazine

Only one antibody against three rare genetic diseases

All you need is an antibody to fight three rare genetic diseases. The antibody is called canakinumab and the three diseases are all characterized by fever and recurrent inflammation. The news of the discovery was spread by the Bambino Gesù children's hospital in Rome, which coordinated a world experimentation.

The study examined three genetic diseases: periodic syndrome associated with tumor necrosis factor receptor 1 (Traps); family Mediterranean fever (Fmf); mevalonate kinase deficiency (Mkd). For the first of the three there is a therapy, ineffective in 5-10% of cases. The other two diseases were instead without treatment. The researchers then looked for a way to stop inflammation and thus uncontrolled fevers.

The study involved 181 patients from 15 countries. The researchers used the canakinumab antibody on them, which blocks the action of interleukin 1. This is a key molecule in all three genetic diseases. Acting on it, the febrile episodes almost completely disappeared and the patients returned to a normal life. Among them there is also the nineteen-year-old Chiara, who has resumed her life after the treatment.

Chiara is affected by familial Mediterranean fever and does not respond to colchicine therapy. This forced her to live almost as a recluse, undermining friendships and academic achievement. Because of the illness, Chiara had to give up a normal childhood. The treatment of the Child Jesus has restored her control over her life, allowing her to attend university and to cultivate new friendships.