Background

Nusinersen recently became available as the first treatment for Spinal Muscular Atrophy (SMA) and data on its effectiveness and safety in adult SMA patients are still scarce.

Methods

We evaluated the effectiveness and safety of nusinersen treatment during 14 months in 16 adult patients with SMA types 3 and 4 in a prospective study, and retrospectively detailed the natural history of 48 adult SMA patients types 2, 3 and 4.

Results

Hand grip strength (p = 0.03), hand motor function (p = 0.04) as assessed by a sub-score of the Revised Upper Limb Module (RULM) and the Medical Research Council (MRC) sum score (p = 0.04) improved significantly at month 14. Importantly, the MRC sum score had declined significantly (p < 0.01) prior to start of treatment in these patients. A minimal clinically important difference (MCID) in the Hammersmith Functional Motor Scale Expanded (HFMSE) and RULM scores was achieved in 31% and 50% of the patients, respectively, but the mean changes from baseline failed to reach significance. Forced Vital Capacity (FVC) transiently increased at month 6 (p = 0.01), whereas the Peak Expiratory Flow (PEF) did not. The Activity Limitations scale declined significantly prior to start of treatment (p < 0.01) and showed an improvement with nusinersen which was not significant. The safety evaluation did not reveal serious adverse events and no signs of nephrotoxicity or antisense oligonucleotide (ASO)-mediated inflammation.

Conclusions

We conclude that hand grip strength and hand motor function, as well as MRC sum scores improved significantly in nusinersen-treated adult patients with SMA types 3 and 4.

中文翻译：

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Nusinersen治疗可显着改善3型和4型脊髓性肌萎缩症成年患者的手握力，手运动功能和MRC总分。

背景

Nusinersen最近可作为第一种治疗脊髓性肌萎缩症（SMA）的药物，其在成年SMA患者中有效性和安全性的数据仍然匮乏。

方法

我们在一项前瞻性研究中评估了14名成人3型和4型SMA成人患者在14个月内Nusinersen治疗的有效性和安全性，并回顾了48名成人2型，3型和4型SMA患者的自然史。

结果

 经修订的上肢模块（RULM）和医学研究理事会（MRC）的总分（p  = 0.04）的子分数评估的手握力（p  = 0.03），手运动功能（p = 0.04）重要的是， 这些患者在开始治疗前的MRC总分明显下降（p <0.01）。Hammersmith功能性运动量表扩展（HFMSE）和RULM评分在临床上的最小重要临床差异（MCID）分别达到31％和50％，但与基线相比的平均变化未能达到显着水平。第6个月，强制肺活量（FVC）短暂增加（p = 0.01），而峰值呼气流量（PEF）则没有。在开始治疗前，活动极限量表显着下降（p  <0.01），并且使用努辛森治疗后改善不明显。安全性评估未发现严重的不良事件，也没有肾毒性或反义寡核苷酸（ASO）介导的炎症迹象。

结论

我们得出的结论是，在接受纽森森治疗的3型和4型SMA成年患者中，手握强度和手运动功能以及MRC总分明显提高。