RESEARCH ACCOMPLISHMENTS Behcet's Disease (a) Dr. Sibley traveled to Istanbul in December 2010 to collect patient disease questionnaire data, blood, DNA, RNA, and tissue specimens. (b) Preliminary analysis shows that organ manifestations and disease activity measurements differ in the United States compared to Turkey. Notably, Turkish patients have more severe organ manifestations whereas American patients report higher disease activity on questionnaires. (c) The first paired affected and unaffected samples for microbiome and RNA-Seq analyses have been successfully analyzed. This proves the feasibility of the projects with larger efforts now underway. (d) IRB approval has been obtained to begin a pilot clinical study of ankinra in the treatment of mucocutaneous BD. Patient enrollment will begin shortly. Adult Onset Stills Disease (a) The pilot study of rilonacept in AOSD has been completed. The data from this study has been monitored and the database is now locked. Preliminary analyses now underway showing that three patients responded well to rilonacept. The two non-responders were switched to tocilizumab, an IL-6 receptor blocker, and are now showing clinical benefit. CONCLUSIONS AND SIGNFICANCE Similar methods to those used in the monogenic auto-inflammatory disorders NOMID and DIRA are underway to characterize clinical and inflammatory pathways in Behcets Disease and AOSD, polygenic diseases in adults. 1. A pilot study of IL-1 inhibition with rilonacept has been completed in AOSD. 3/5 patients showed good response to IL-1 blockade whereas the remaining 2 patients responded well to a change of therapy to the IL-6 receptor blocker, tocilizumab. 2. Cytokine profiles will be analyzed from longitudinal serum samples collected from AOSD patients with an effort to better understand the underlying inflammatory pathophysiology of this disease. 3. Organ manifestations and disease activity measures of American BD patients have been summarized and will be compared to patients from more classically defined ethnic backgrounds. Data suggests that important differences exist between these groups. 4. Tissue microbiome and RNA-Seq characterization is underway in patients with active BD compared to ethnically matched controls. 5. A pilot study of IL-1 inhibition with anakinra in patients with mucocutaneous BD has been IRB approved with enrollment to begin shortly.

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National Institute of Arthritis and Musculoskeletal and Skin Diseases
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