渐冻症靶向治疗实现临床应用，北医三院打出全国首针

Core Insights - The Beijing University Third Hospital has administered the first targeted treatment for SOD1-ALS in China, marking a significant advancement in the treatment of this condition [1] - Tofersen injection, the first and only disease-modifying therapy (DMT) approved for adult patients with SOD1-ALS, received FDA approval in April 2023 and NMPA approval in September 2024 [1] - The drug works by specifically binding to the SOD1 mRNA, promoting its degradation, and significantly reducing the synthesis and accumulation of toxic SOD1 protein, potentially delaying disease progression [1] Treatment Development - The treatment was administered to a 43-year-old female patient diagnosed with SOD1-ALS after experiencing unexplained progressive muscle weakness [1] - The collaboration between the neurology department and the pharmacy department at the hospital facilitated the procurement and introduction of the drug [1] Clinical Significance - The application of Tofersen injection represents a new era of "etiological treatment" for ALS in China, focusing on addressing the underlying cause of the disease [1] - Early detection and treatment are emphasized as crucial for patients with genetic backgrounds like SOD1 mutations, highlighting the importance of timely medical intervention [2]