Background: Nusinersen has recently been approved and more widely used as first-line treatment of spinal muscular atrophy (SMA). This study aimed to evaluate the real-world experience of nusinersen use for patients with a broad spectrum of SMA. Methods: We reviewed consecutive patients with SMA treated with nusinersen from April 2018 to April 2020. Data collected included clinical and diagnostic characteristics, molecular genetics, functional motor outcomes, and adverse events. Results: Seven patients including four with SMA type 1 and three with SMA type 2 were treated with nusinersen. The median disease duration at the time of the first dose and the median follow-up duration were 37 months (range: 0.5–254 months) and 6.1 months (range: 2.1–22.1 months), respectively. Of the 41 lumbar punctures (LPs), seven fluoroscopy-guided LPs were successfully performed for two patients without sedation. All patients showed improvement in motor function even though the current tools for motor assessment seemed unable to detect subtle subjective improvement. All patients maintained a stable respiratory status. No patient has experienced a severe adverse event or discontinued treatment so far. Conclusion: Although the number of patients in this study was small, our results suggest that nusinersen is effective even in patients with a later stage of the disease. Additional long-term prospective studies with more number of patients having a broad spectrum of diseases are needed to identify meaningful improvement in the motor function and quality of life after nusinersen treatment.

中文翻译：

---

nusinersen治疗广谱脊髓性肌萎缩症的临床经验：回顾性研究

背景： Nusinersen 最近被批准并更广泛地用作脊髓性肌萎缩症 (SMA) 的一线治疗。本研究旨在评估使用 nusinersen 治疗各种 SMA 患者的真实体验。方法：我们回顾了 2018 年 4 月至 2020 年 4 月期间接受 nusinersen 治疗的连续 SMA 患者。收集的数据包括临床和诊断特征、分子遗传学、功能性运动结果和不良事件。结果：包括 4 名 1 型 SMA 和 3 名 2 型 SMA 在内的 7 名患者接受了 nusinersen 治疗。首次给药时的中位病程和中位随访时间分别为 37 个月（范围：0.5-254 个月）和 6.1 个月（范围：2.1-22.1 个月）。在 41 次腰椎穿刺 (LPs) 中，7 次在透视引导下成功为 2 名未使用镇静剂的患者进行了腰椎穿刺。尽管目前的运动评估工具似乎无法检测到细微的主观改善，但所有患者的运动功能均有所改善。所有患者均保持稳定的呼吸状态。到目前为止，没有患者经历过严重的不良事件或停止治疗。结论：尽管本研究中的患者数量很少，但我们的结果表明，即使在疾病晚期的患者中，nusinersen 也是有效的。需要对更多患有广泛疾病的患者进行额外的长期前瞻性研究，以确定 nusinersen 治疗后运动功能和生活质量的有意义的改善。