創源 將打造多基因測序平台 2016年04月26日方明／台北報導 訊聯集團旗下創源生技（4160）替國際大藥廠諾華進行的自體發炎疾病（CAPS）基因檢測傳出喜訊，該檢測去年底成為該藥品健保給付必要條件之一，並將進一步針對10項CAPS進行伴隨式診斷，公司預計3年內打造第1個CAPS多基因測序平台，且在次世代基因定序（NGS）篩檢比重提高下，今年營運將較去年為佳。創源總經理蔡政憲表示，公司接受國際藥廠諾華委託，進行CAPS患者基因檢測的藥物適應性，經過5年努力終於開花結果，精確診斷出此疾病，並在去年底，基因檢測成為該藥品健保給付必要條件之一。蔡政憲表示，後續創源將與諾華及臨床醫師合作，預計3年內以高通量快速基因測序法，建置台灣第一個針對自體發炎疾病相關多基因測序平台。(工商時報)
Taiwan records, cures 1st cryopyrin-associated periodic syndrome case 2016/04/25 Taipei, April 25 (CNA) A four-year-old child who suddenly developed fever and rash when only two months old was confirmed a year later to have been hit with a rare autoinflammatory disease called cryopyrin-associated periodic syndrome (CAPS), the first such case in Taiwan. The child, whose disease was confirmed by genetic testing, was cured soon after the correct diagnosis was made, said Yang Yao-hsu (楊曜旭), a pediatrician at National Taiwan University Hospital. The disease usually hits children, causing inflammation in organs, nervous system, and joints. In serious cases, a patient may suffer fever or chills, rash, joint pain, eye-redness, deafness and fatigue. If it worsens, it can be life-threatening. Yang said the rare disease strikes about one in one million and because of its rarity, doctors often are not vigilant enough to detect it, leaving patients to seek diagnoses from one hospital department to another without getting a correct one. A local biopharmaceutical company developed a genetic testing kit five years ago that can correctly diagnose CAPS. Following the diagnosis, the use of the right medicine can heal the patient, as was the case with this child. The child was injected with a medicine manufactured by Novartis Pharmaceuticals and all symptoms disappeared within 24 hours, Yang said, noting that the child continued with the medication for another year and is now four years old.
Canakinumab (INN, trade name Ilaris, previously ACZ885) is a human monoclonal antibody targeted at interleukin-1 beta. It has no cross-reactivity with other members of the interleukin-1 family, including interleukin-1 alpha. Canakinumab was approved for the treatment of cryopyrin-associated periodic syndromes (CAPS) by the U.S. Food and Drug Administration (FDA) on June 2009 and by the European Medicines Agency in October 2009. CAPS is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle–Wells syndrome, and neonatal-onset multisystem inflammatory disease. Canakinumab was being developed by Novartis for the treatment of rheumatoid arthritis but this trial was completed in October 2009. Canakinumab is also in phase I clinical trials as a possible treatment for chronic obstructive pulmonary disease, gout and coronary artery disease. It is also in trials for Schizophrenia.[8] In gout it may result in better outcomes than a low dose of a steroid but costs five thousand times more.
全台首例 女童罹罕見自體發炎疾病 健康醫療網／記者郭庚儒報導 2016/04/26一名4歲女童，出生2個月大開始，皮膚出現蕁麻疹，還伴隨高燒，後續又併發虹彩炎、關節炎，甚至影響智力發展，家長前後帶至小兒科、皮膚科、眼科、骨科就診，終於透過基因檢測確診為「Cryopyrin相關週期性症候群」（CAPS），此個案為全台首例。
發生率僅百萬多之0.5 收治個案的台大醫院小兒過敏免疫科主任楊曜旭表示，CAPS是一種基因突變的罕見自體發炎疾病，與NLRP3基因變異導致後續造成介白素IL-1 β的過度產生相關。根據國外資料統計，發生率僅百萬多之0.5，這是國內首起病例。
藥費昂貴 如今有健保給付 楊曜旭指出，女童2歲大才開始就醫，至各科就診約1年多時間，曾經使用類固醇、免疫製劑、生物製劑等治療，但全身性發炎症狀始終未改善，最後透過基因檢測確診罹患CAPS，及時使用人類單株抗體注射劑治療，症狀立即緩解，所幸此針劑有健保給付，一劑高達42萬、每2個月打一次，不然家屬恐怕無法負擔。
基因檢測精準診斷 楊曜旭強調，CAPS好發於幼童，患者的器官、關節、神經系統等都可能發炎，嚴重恐造成全身器官衰竭致死，現在透過精確的基因檢測診斷，可使患者得以脫離死亡威脅，並改善生活品質。