This invention relates to methods employing IL-1.beta.-ligand/IL-1 receptor disrupting compounds such as IL-1.beta. antibodies or IL-1 receptor antibodies, in the treatment and/or prevention of Familial Mediterranean Fever (FMF), in mammals, particularly humans.

Lowe; Philip

Gram; Hermann

Jung; Thomas

Wright; Timothy

Mundel; Trevor

Novartis AG

Methods of using IL-1.beta. compounds to treat familial mediterranean fever (FMF)

The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A. Additionally, the invention includes methods for diagnosing a patient at risk for having FMF and kits therefor.

The United States of America as represented by the Department of Health and Human Services

Cedars-Sinai Medical Center

University of California

University of Michigan

Women's and Children's Hospital

Heller Institute for Medical Research

Pyrin gene and mutants thereof, which cause familial Mediterranean fever

Methods of treating, inhibiting, or ameliorating an autoinflammatory disorder, disease, or condition in a subject in need thereof, comprising administering to a subject in need a therapeutic amount of an interleukin 1 (IL-1) antagonist, wherein the autoinflammatory disorder, disease, or condition is treated, inhibited, or ameliorated. The IL-1 antagonist is a molecule capable of binding and inhibiting IL-1. The therapeutic methods are useful for treating a human adult or child suffering from Neonatal Onset Multisystem Inflammatory Disorder (NOMID/CINCA), Muckle-Wells Syndrome (MWS), Familial Cold Autoinflammatory Syndrome (FCAS), familial mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), or systemic onset juvenile idiopathic arthritis (Still's Disease).

familial mediterranean fever/gorączka

Methods of using IL-1.beta. compounds to treat familial mediterranean fever (FMF)

Pyrin gene and mutants thereof, which cause familial Mediterranean fever

Methods of using IL-1 antagonists to treat autoinflammatory disease

Methods of using IL-1 antagonists to treat autoinflammatory disease

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