Abstract：
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.
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.
摘要：
背景：脊髓性肌萎缩症（SMA）是一种以骨骼肌萎缩和无力为特征的遗传性神经肌肉疾病。已经开发了SMA的新治疗方法，即药物Nusinersen,前基因阿贝帕沃维奇，还有risdiplam.然而,关于它们对成年SMA患者的影响的报道有限，特别是在长期内。因此,本研究旨在确定nusinersen治疗成人SMA患者的疗效.
方法：我们回顾性分析了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。在开始nusinersen治疗之前，使用Hammersmith功能运动量表（HFMSE）对所有患者进行了评估。并比较基线HFMSE评分的变化。
结果：共有6名患者，3例SMA2型或3型患者接受nusinersen治疗.开始nusinersen治疗前患者的中位年龄为51.5岁（范围，33-59岁），中位治疗期为50.5个月(范围，33-57个月）。在nusinersen治疗后15-26个月，三名患者的HFMSE改善趋势增加，两名患者的HFMSE评分保持不变。在3例患者中观察到明显的不良事件：1例硬膜下血肿，一个偶然的骨折,还有一个脸颊皮肤纤维肉瘤.
结论：Nusinersen治疗在2型或3型SMA成年患者中显示出后期疗效。nusinersen的独特功效需要使用大量病例和长期随访进行进一步调查。
方法：我们回顾性分析了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。在开始nusinersen治疗之前，使用Hammersmith功能运动量表（HFMSE）对所有患者进行了评估。并比较基线HFMSE评分的变化。
结果：共有6名患者，3例SMA2型或3型患者接受nusinersen治疗.开始nusinersen治疗前患者的中位年龄为51.5岁（范围，33-59岁），中位治疗期为50.5个月(范围，33-57个月）。在nusinersen治疗后15-26个月，三名患者的HFMSE改善趋势增加，两名患者的HFMSE评分保持不变。在3例患者中观察到明显的不良事件：1例硬膜下血肿，一个偶然的骨折,还有一个脸颊皮肤纤维肉瘤.
结论：Nusinersen治疗在2型或3型SMA成年患者中显示出后期疗效。nusinersen的独特功效需要使用大量病例和长期随访进行进一步调查。
