Background

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by skeletal muscle atrophy and weakness. New treatments for SMA have been developed namely, the drugs nusinersen, onasemnogene abeparvovec, and risdiplam. However, there are limited reports on their effects on adult patients with SMA, particularly over long periods. Therefore, this study aimed to determine the efficacy of nusinersen treatment in adult patients with SMA.

Methods

We retrospectively reviewed patients with SMA type 2 or 3 who received nusinersen treatment between January 2018 and January 2023. All patients were evaluated using the Hammersmith Functional Motor Scale-Expanded (HFMSE) before the commencement of nusinersen treatment, and the change with respect to the baseline HFMSE score was compared.

Results

A total of six patients, three patients each with SMA type 2 or 3, were treated with nusinersen. The median age of the patients before the commencement of nusinersen treatment was 51.5 years (range, 33–59 years), and the median treatment period was 50.5 months (range, 33–57 months). Three patients showed an increased tendency of improvement on the HFMSE at 15–26 months after nusinersen treatment, and the HFMSE score was maintained in two patients. Significant adverse events were observed in three patients: one subdural hematoma, one incidental bone fracture, and one cheek dermatofibrosarcoma.

Conclusions

Nusinersen treatment showed later efficacy in adult patients with SMA type 2 or 3. The distinct efficacy of nusinersen requires further investigation using a large number of cases and a long follow-up period.

中文翻译：

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nusinersen 治疗成年脊髓性肌萎缩症患者的后期疗效：中位随访 4 年的回顾性病例研究

 背景

脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，其特征是骨骼肌萎缩和无力。 SMA 的新疗法已经开发出来，即药物 nusinersen、onasemnogene abeparvovec 和 risdiplam。然而，关于它们对 SMA 成年患者的影响（尤其是长期影响）的报道有限。因此，本研究旨在确定 nusinersen 治疗成年 SMA 患者的疗效。

 方法

我们回顾性审查了 2018 年 1 月至 2023 年 1 月期间接受 nusinersen 治疗的 2 型或 3 型 SMA 患者。所有患者在 nusinersen 治疗开始前均使用 Hammersmith 功能运动量表扩展版 (HFMSE) 进行评估，以及与比较基线 HFMSE 评分。

 结果

共有 6 名患者接受 nusinersen 治疗，其中 3 名患者患有 2 型或 3 型 SMA。开始 nusinersen 治疗前患者的中位年龄为 51.5 岁（范围为 33-59 岁），中位治疗时间为 50.5 个月（范围为 33-57 个月）。 nusinersen 治疗后 15-26 个月，三名患者的 HFMSE 表现出改善趋势，两名患者的 HFMSE 评分保持不变。在三名患者中观察到明显的不良事件：一名硬膜下血肿、一名意外骨折和一名脸颊皮肤纤维肉瘤。

 结论

Nusinersen治疗在2型或3型SMA成年患者中显示出较晚的疗效。nusinersen的独特疗效需要通过大量病例和长期随访进行进一步研究。