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NOMID Symptoms Helped By Arthritis Drug

ears has revealed mutations in a gene called CIAS1 in approximately 60 percent of patients with the disease. CIAS1 encodes cryopyrin, which belongs to a group of interacting proteins involved in regulating inflammation and programmed cell death, which plays a crucial role in ridding the body of cells that are no longer needed. The mutations, scientists have found, lead to an imbalance of a cytokine, or chemical messenger, called interleukin-1 (IL-1), which is believed to drive the inflammation that causes damage in patients with the disease.

Isolated case reports have suggested that anakinra might be effective in treating the rash and other symptoms of NOMID. Anakinra is a biologic agent, a medicine based on compounds that are made by living cells and used to stimulate or restore the ability of the immune system to fight disease and/or infection. It works by blocking the effects of IL-1beta (IL-1?), and is approved for treating rheumatoid arthritis. Until the new NIAMS study, however, the agent had not been systematically assessed in a larger group of patients with NOMID, and its effect on the most devastating organ manifestations — including the central nervous system, the eyes and the ears — had not been investigated, says Raphaela Goldbach-Mansky, M.D., a rheumatologist and the study’s lead author.

To determine the possible role of anakinra in treating NOMID, the researchers treated 18 NOMID patients (12 with identifiable CIAS1 mutations) ages 4 to 32 with daily doses of anakinra based on body weight. At one, three and six months they assessed the treatment's effectiveness.

All 18 of the patients, they found, had an immediate clinical response to anakinra. Rash and conjunctivitis (inflammation of the membrane lining the eyelids), both common in NOMID, disappeared within three days. By three months, laboratory measures of inflammation, including erythrocyte sedimentation rate, c-reactive protein and serum amyloid A protein (SAA)
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