Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
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DOI：
10.1136/jnnp-2020-323822
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发表时间：
2020-11-01
影响因子：
11
通讯作者：
Pegoraro, Elena
中科院分区：
文献类型：
--
作者：
Maggi, Lorenzo;Bello, Luca;Pegoraro, Elena
目的：回顾性研究诺西那生在一大群意大利成年脊髓性肌萎缩症（SMA）患者中的安全性和有效性。
方法：纳入标准为：（1）SMA2或SMA3的临床和分子诊断；（2）在成年期（>18岁）开始诺西那生治疗；（3）至少在基线（T0 - 治疗开始）和6个月（T6）时有临床数据。
结果：我们纳入了116例患者（13例SMA2和103例SMA3），首次给药时的中位年龄为34岁（范围18 - 72岁）。SMA3患者的哈默史密斯功能评定量表扩展版（HFMSE）从基线到T6显著增加（中位变化 +1分，p
Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).Methods Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6).Results We included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18-72). The Hammersmith Functional Rating Scale Expanded (HFMSE) in patients with SMA3 increased significantly from baseline to T6 (median change +1 point, p