背景:这项研究调查了nusinersen的疗效和安全性,反义寡核苷酸,在患有脊髓性肌萎缩症(SMA)II型(OMIM:253,550)或III型(OMIM:253,400)的患者中,包括严重脊柱侧凸或需要通过机械通气进行呼吸支持的患者。
方法:回顾性分析了2019年3月至2022年4月在我们研究所接受nusinersen治疗的40例基因证实的SMA患者的数据。其中,选择30例发病年龄<3岁且未进行永久性通气的患者。研究了临床和遗传特征,运动功能是根据Hammersmith功能运动量表扩展(HFMSE)评分进行评估的。
结果:症状发作的平均年龄为1.2岁。多数患者诊断为SMAⅡ型(27/30,90%)。在87%(26/30)和13%(4/30)的患者中,Nusinersen通过计算机断层扫描引导或直接鞘内注射给药。分别。在6-,14-,22-,和26个月的随访,72%,71%,88%,86%的患者表现出运动改善,分别,HFMSE评分的平均变化分别为2.10、2.88、4.21和5.29。多变量分析表明,使用无创通气与运动功能较差的预后相关。
结论:接受nusinersen治疗的II型或III型SMA患者在运动功能方面有显著改善。更长的治疗时间导致更多的患者运动功能得到改善。没有观察到nusinersen的显著副作用。SMA患者,即使是那些有严重脊柱侧弯或呼吸支持的人,可以使用nusinersen安全治疗。
This study investigated the efficacy and safety of nusinersen, an antisense oligonucleotide, in patients with spinal muscular atrophy (SMA) types II (OMIM: 253,550) or III (OMIM: 253,400), including those with severe scoliosis or requiring respiratory support via mechanical ventilation.
Data from 40 patients with genetically confirmed SMA who were treated with nusinersen at our institute from March 2019 to April 2022 were retrospectively analyzed. Of these, 30 patients with an age of onset < 3 years and not on permanent ventilation were selected. Clinical and genetic characteristics were investigated, and motor function was evaluated based on the Hammersmith Functional Motor Scale-Expanded (HFMSE) score.
The mean age of symptom onset was 1.2 years. Most patients were diagnosed with SMA type II (27/30, 90%). Nusinersen was administered via computed tomography-guided or direct intrathecal injection in 87% (26/30) and 13% (4/30) of the patients, respectively. At the 6-, 14-, 22-, and 26-month follow-ups, 72%, 71%, 88%, and 86% of patients showed motor improvement, respectively, with mean changes in HFMSE scores of 2.10, 2.88, 4.21, and 5.29, respectively. Multivariable analysis showed that the use of noninvasive ventilation was associated with poorer outcomes of motor function.
Patients with SMA type II or III who received nusinersen treatment showed significant improvement in motor function. A longer treatment duration led to a higher number of patients with improved motor function. No significant side effects of nusinersen were observed. Patients with SMA, even those with severe scoliosis or on respiratory support, can be safely treated using nusinersen.