From the Department of Neurology, Oregon Health & Science University, Portland.
Neurology. 2020 Jul 28;95(4):e413-e416. doi: 10.1212/WNL.0000000000009914. Epub 2020 Jul 14.
To report our experience with adult patients with spinal muscular atrophy (SMA), some of whom were treated with nusinersen.
We reviewed charts of adult patients with SMA seen in our neuromuscular clinic between 2017 and 2019 and noted their demographics, clinical characteristics, treatment, and side effects.
Twenty-two patients were included. Nine had type 2 and 13 type 3 SMA. Median age was 36 years (range 20-71). Most could not walk unassisted. Ten patients had significant respiratory impairment necessitating ventilation and 2 had tracheostomy. Seventeen had severe scoliosis. Ten patients were treated with nusinersen for 6-24 months (median 12 months), 3 of whom required bone laminectomy for intrathecal access. One developed bowel and bladder incontinence following the procedure. In the treated group, on average, % Medical Research Council change was 2.5% at 12 months and 3.9% at 24 months. Most untreated patients remained stable; 3 had slightly declined. Five treated patients reported subjective improvement. Treatment side effects included post lumbar puncture headache in 5 patients, 2 of whom needed blood patch, and 1 bacterial meningitis requiring inpatient treatment. Three patients stopped treatment after 12-24 months due to lack of improvement, recurrent pneumonia, or proteinuria.
Side effects of nusinersen can be serious. Whereas half of treated patients reported modest improvement in function, there were no significant objective changes, which may point largely to a placebo effect.
This study provides Class IV evidence that for some adult patients with SMA, nusinersen improves subjective function and causes serious adverse effects.
报告我们在接受 nusinersen 治疗的成年脊肌萎缩症（SMA）患者中的一些治疗经验。
我们回顾了 2017 年至 2019 年间在我们神经肌肉诊所就诊的成年 SMA 患者的图表，并记录了他们的人口统计学、临床特征、治疗和副作用。
共纳入 22 例患者。9 例为 2 型 SMA，13 例为 3 型 SMA。中位年龄为 36 岁（范围 20-71 岁）。大多数患者无法独立行走。10 例患者存在严重呼吸功能障碍，需要通气，2 例患者需要气管切开术。17 例患者存在严重脊柱侧凸。10 例患者接受 nusinersen 治疗 6-24 个月（中位 12 个月），其中 3 例因鞘内入路需要进行骨椎板切除术。1 例患者在该手术后出现了大小便失禁。在治疗组中，平均 12 个月时，% Medical Research Council 变化为 2.5%，24 个月时为 3.9%。大多数未治疗的患者保持稳定；3 例患者略有下降。5 例治疗患者报告主观改善。治疗的副作用包括 5 例患者出现腰椎穿刺后头痛，其中 2 例需要进行血补丁治疗，1 例细菌性脑膜炎需要住院治疗。3 例患者因治疗 12-24 个月后无改善、反复肺炎或蛋白尿而停止治疗。
nusinersen 的副作用可能很严重。尽管一半接受治疗的患者报告功能有一定程度的改善，但没有明显的客观变化，这可能主要指向安慰剂效应。
本研究提供了 IV 级证据，表明对于一些成年 SMA 患者，nusinersen 可改善主观功能并引起严重不良反应。
