トフェルセン—SOD1_ALSと闘う新しい核酸医薬

Current Landscape of Tofersen in SOD-1-associated Amyotrophic Lateral Sclerosis

SOD1変異に伴う家族性筋萎縮性側索硬化症（ALS）は1993年に原因遺伝子が同定されて以来，30余年に渡り病態研究や治療法の開発が進められてきた。トフェルセンは病態に即した待望の遺伝子特異的治療薬で米国FDA，欧州EMAにおいて製造販売承認されたが，安全性と有効性に関する継続的なデータ蓄積を求められており道半ばである。わが国での今後の承認への期待と共にトフェルセンを取り巻く現況について紹介する。

Abstract

Since the identification, in 1993, of the causative gene for familial amyotrophic lateral sclerosis (ALS), which is associated with SOD1 mutations, research has focused on the pathogenesis and therapeutics of ALS for more than 30 years. Tofersen, a highly anticipated gene-specific therapy that has been aligned with the disease-specific pathology, has been approved for marketing by the U.S. Food and Drug Administration (FDA) and European Medicines Agency (EMA) However, as significant data on tofersen's safety and efficacy are required, the evaluation of this treatment is ongoing. This paper introduces the current clinical and commercial status of Tofersen, along with expectations for its approval in Japan.