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CNS Drugs. 2022 Sep;36(9):995-1005. doi: 10.1007/s40263-022-00941-1. Epub 2022 Aug 12.
Onasemnogene abeparvovec (Zolgensma) is a gene therapy approved for the treatment of spinal muscular atrophy (SMA). Administered as a one-time intravenous infusion, onasemnogene abeparvovec uses the adeno-associated virus vector to deliver a functional copy of the human survival motor neuron (SMN) gene to motor neuron cells. SMN1 encodes survival motor neuron protein, which is responsible for the maintenance and function of motor neurons. In clinical trials, onasemnogene abeparvovec improved event-free survival, motor function and motor milestone outcomes in patients with SMA, with these improvements maintained over the longer term (up to a median of ≈ 5 years). Onasemnogene abeparvovec was also associated with rapid age-appropriate achievement of motor milestones and improvements in motor function in children with pre-symptomatic SMA, indicating the benefit of early treatment. Onasemnogene abeparvovec was generally well tolerated. Hepatotoxicity is a known risk that can generally be mitigated with prophylactic prednisolone. In conclusion, onasemnogene abeparvovec represents an important treatment option for patients with SMA, particularly when initiated early in the course of the disease.
onasemnogene abeparvovec（Zolgensma）是一种基因治疗药物，用于治疗脊髓性肌萎缩症（SMA）。作为一次性静脉输注药物，onasemnogene abeparvovec 使用腺相关病毒载体将人类生存运动神经元（SMN）基因的功能性拷贝递送到运动神经元细胞。SMN1 编码生存运动神经元蛋白，负责运动神经元的维持和功能。在临床试验中，onasemnogene abeparvovec 改善了 SMA 患者的无事件生存、运动功能和运动里程碑结局，这些改善在更长时间内得到维持（最长约为 5 年）。onasemnogene abeparvovec 还与具有前驱症状的 SMA 儿童的快速达到与年龄相适应的运动里程碑以及运动功能的改善相关，表明早期治疗的益处。onasemnogene abeparvovec 总体上具有良好的耐受性。肝毒性是一种已知的风险，但通常可以通过预防性泼尼松龙来减轻。总之，onasemnogene abeparvovec 是 SMA 患者的一种重要治疗选择，特别是在疾病早期开始治疗时。
