OP0119 Patient Journey and Treatment Route to Use of First Biologic in Rare Autoinflammatory Diseases: an International Retrospective Chart Review

• Published in: Annals of the rheumatic diseases Vol. 73; no. Suppl 2; p. 106
• Main Authors: Özen, S., Kuemmerle-Deschner, J., Cantarini, L., Cimaz, R., Quartier, P., Gül, A., Koné-Paut, I., Spalding, S., Zeft, A., Simon, A., Hashkes, P., Hentgen, V., Kallinich, T., Savic, S., Foeldvari, I., Frenkel, J., Machein, U., Livneh, A., Lachmann, H.
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 01.06.2014
• ISSN: 0003-4967; 1468-2060
• DOI: 10.1136/annrheumdis-2014-eular.3251

Background Due to low incidence rates, treatment data and guidelines in hereditary periodic fevers are limited. To complement published data from the autoinflammatory diseases PRINTO/Eurofever registry, an international noninterventional study of colchicine-resistant familial Mediterranean fever (crFMF), tumor necrosis factor-receptor-associated periodic syndrome (TRAPS), or hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) patients was conducted. Objectives To characterize the patient journey from disease onset to 1st use/eligibility of a biologic. Methods Chart review of adult/pediatric patients with clinically or genetically confirmed disease treated by a specialist (2008-12), with ≥12-mo follow-up post diagnosis. Eligible patients had inadequate response/intolerance to 1st-line treatment and received/were eligible for biologics. Eligible FMF patients had an inadequate response to colchicine as determined by physician (termed crFMF). Results 54 crFMF, 47 TRAPS and 38 HIDs patient records were analyzed. Time from symptom onset to diagnosis: 3.5-12.7 years. Only 33% and 46% of TRAPS and HIDS patients, respectively, received correct diagnosis before expert referral vs 69% with crFMF. Median times from disease onset to initiation of 1st biologic: 6.1 (crFMF), 5.9 (TRAPS) and 1.4 (HIDS) years. Initial and subsequent treatment as provided by specialists is reported here. All crFMF patients received colchicine: 6% subsequently had complete response (CR), 65% partial response (PR) and 29% no response (NR); 31 received 1st biologic plus colchicine (the 3 CR patients were deemed eligible by physician for a biologic due to CR loss, high colchicine dose, or continued severe symptoms). Of 47 TRAPS patients, initially 26 received a biologic; 21, corticosteroids. Of patients on corticosteroids, 34%, 42%, and 24% had CR, PR, and NR, respectively; 3 patients continued and 1 discontinued corticosteroids, and 17 switched to 1st biologic. Of 38 HIDS patients, initially 25 patients received a biologic (with 4 awaiting biologic) and 9 corticosteroids. Of patients on corticosteroids, 11%, 67% and 22% had CR, PR and NR, respectively; 3 patients continued and 6 switched to 1st biologic. Conclusions This analysis supports the need for greater awareness of such diseases, expedited referral to specialized centers, and development of standardized treatment algorithms, definitions of response, and guidelines. Disclosure of Interest S. Özen Consultant for: Novartis, Speakers bureau: Biovitrium-SOBI, Novartis, J. Kuemmerle-Deschner Consultant for: Novartis, L. Cantarini Grant/research support: Novartis, SOBI, Consultant for: Novartis, SOBI, R. Cimaz: None declared, P. Quartier Grant/research support: Abbvie, BMS, Chugai-Roche, Novartis, Pfizer, SOBI, Consultant for: Abbvie, Chugai-Roche, Novartis, Pfizer, Servier, SOBI, Speakers bureau: Chugai-Roche, MEDIMMUNE, Novartis, Pfizer, A. Gül Grant/research support: Novartis, Consultant for: Novartis, Speakers bureau: Novartis, I. Koné-Paut Grant/research support: SOBI, LFB, Consultant for: Novartis, SOBI, Pfizer, Chugai, S. Spalding: None declared, A. Zeft Consultant for: Novartis, A. Simon Grant/research support: Servier, Consultant for: Novartis, Servier, SOBI, P. Hashkes Grant/research support: Novartis, Consultant for: Novartis, Paid instructor for: Novartis, V. Hentgen Consultant for: Novartis, Paid instructor for: Novartis, Pfizer, Roche, T. Kallinich Speakers bureau: Novartis, Pfizer, S. Savic Consultant for: Novartis, I. Foeldvari Consultant for: Novartis, Abbott, Chugai, Genzyme, J. Frenkel Grant/research support: European Union ERANET, Consultant for: Novartis, U. Machein Employee of: Novartis, A. Livneh: None declared, H. Lachmann Grant/research support: Novartis, Celtic, Consultant for: Novartis DOI 10.1136/annrheumdis-2014-eular.3251