FDA批准Kygevvi治疗胸苷激酶2缺乏症，为该病首个获批药物，证据涵盖78名患者
美国食品药品管理局（FDA）11月3日批准Kygevvi（doxecitine与doxribtimine复方）口服溶液用粉，用于治疗症状发作年龄在12岁及以下的胸苷激酶2缺乏症（TK2d）成人与儿童患者。申办方为UCB公司，该药是首个且唯一获批的TK2d治疗药物，并曾获FDA孤儿药、突破性疗法、优先审评与罕见儿科疾病认定。
TK2d是一种超罕见的常染色体隐性遗传线粒体DNA耗竭综合征，由TK2基因双等位基因致病变异引起。Kygevvi由两种嘧啶核苷组成，是一种底物增强（分子旁路）疗法。
FDA的批准基于多项证据的合并评估：一项正在进行的2期临床研究（Trial 1，NCT03845712，47名成人与儿童患者）、两项回顾性病历审查研究（NCT03701568与NCT05017818）以及一项扩展使用项目，合计涵盖66名儿童与12名成人、经基因确诊且症状发作年龄在12岁及以下的TK2d患者。UCB预计Kygevvi将于2026年第一季度在美国上市。
图中是美国食品药品管理局（FDA）总部51号楼主入口。
FDA Approves Kygevvi as First Treatment for Thymidine Kinase 2 Deficiency, on Evidence From 78 Patients
On November 3, the U.S. Food and Drug Administration (FDA) approved Kygevvi (doxecitine and doxribtimine) powder for oral solution for the treatment of thymidine kinase 2 deficiency (TK2d) in adults and pediatric patients with an age of symptom onset on or before 12 years. The sponsor is UCB, Inc. Kygevvi is the first and only approved treatment for TK2d and previously received FDA Orphan Drug, Breakthrough Therapy, Priority Review and Rare Pediatric Disease designations.
TK2d is an ultra-rare, autosomal recessive mitochondrial DNA depletion syndrome caused by biallelic pathogenic variants in the TK2 gene. Kygevvi, a combination of two pyrimidine nucleosides, works as a substrate enhancement, or molecular bypass, therapy.
The FDA based its approval on combined evidence from an ongoing Phase 2 trial (Trial 1, NCT03845712, in 47 adult and pediatric patients), two retrospective chart review studies (NCT03701568 and NCT05017818), and an expanded access program, covering 66 pediatric and 12 adult patients with genetically confirmed TK2d and symptom onset at or before 12 years of age. UCB expects Kygevvi to be commercially available in the United States in the first quarter of 2026.
来源：美国食品药品管理局
发布：GSM·美国（发布链接）
图片来源：图中是美国食品药品管理局（FDA）总部51号楼主入口。Wikimedia Commons / U.S. Food and Drug Administration, Public domain
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