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.
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。