Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul, 135-720, Korea.
World J Pediatr. 2023 May;19(5):450-459. doi: 10.1007/s12519-022-00638-x. Epub 2022 Nov 28.
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.
本研究调查了反义寡核苷酸 nusinersen 在脊髓性肌萎缩症（SMA）II 型（OMIM：253,550）或 III 型（OMIM：253,400）患者中的疗效和安全性，包括那些患有严重脊柱侧凸或需要机械通气支持的患者。
回顾性分析了 2019 年 3 月至 2022 年 4 月在我院接受 nusinersen 治疗的 40 例基因确诊的 SMA 患者的数据。其中，选择了 30 例发病年龄<3 岁且未进行永久性通气的患者。分析了临床和遗传特征，并根据 Hammersmith 功能性运动量表扩展版（HFMSE）评分评估运动功能。
平均发病年龄为 1.2 岁。大多数患者为 SMA II 型（27/30，90%）。87%（26/30）和 13%（4/30）的患者分别接受了 CT 引导或直接鞘内注射 nusinersen。在 6、14、22 和 26 个月的随访中，分别有 72%、71%、88%和 86%的患者出现运动功能改善，HFMSE 评分分别平均改善 2.10、2.88、4.21 和 5.29。多变量分析显示，使用无创通气与运动功能结局较差相关。
接受 nusinersen 治疗的 SMA II 型或 III 型患者运动功能显著改善。治疗时间越长，运动功能改善的患者越多。未观察到 nusinersen 的明显副作用。即使患有 SMA 的患者有严重的脊柱侧凸或需要呼吸支持，也可以安全地使用 nusinersen 进行治疗。
