Experience of nusinersen treatment in advanced spinal muscular atrophy type 1: Characteristics of late responders with delayed treatment efficacy

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI:10.1016/j.ejpn.2025.02.003

Sachi Tokunaga , Hideki Shimomura , Takuya Horibe , Naoko Taniguchi , Tomoko Lee , Yasuhiro Takeshima

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引用次数: 0

Abstract

Objective

Little clinical data is available for advanced cases of spinal muscular atrophy (SMA) type 1, particularly those requiring ventilation support. Therefore, this study aimed to evaluate the effectiveness of nusinersen treatment on motor and respiratory function in advanced cases of SMA type 1.

Methods

This observational cohort study included seven patients with advanced SMA type 1, requiring permanent ventilator support and tracheostomy, at Hyogo Medical University School of Medicine Hospital between July 2017 and July 2019. The primary outcome was change in motor function, assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score. Subjective changes, which could not be measured with CHOP-INTEND, were also evaluated. The secondary outcomes included changes in respiratory function, measured by tidal volume (TV) and transcutaneous carbon dioxide (TcCO₂) levels.

Results

Two patients showed a meaningful improvement in CHOP-INTEND scores (an increase of 4 points) after 2–3 years of nusinersen treatment. The remaining five showed changes ranging from 0 to 2 points. Subjective changes were observed in all patients. Patient respiratory function outcomes varied; TV increased in two patients and decreased in five, and TcCO₂ levels decreased in three patients and increased in four.

Conclusions

Nusinersen may provide meaningful improvement in motor function in some patients with advanced SMA type 1; however, treatment response may take a while and varies between individuals. Further research is needed to substantiate these findings and identify potential prognostic factors for nusinersen treatment.

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纽西奈森治疗晚期脊髓性肌萎缩症1型的经验：疗效延迟的晚期应答者的特征

目的：1型脊髓性肌萎缩（SMA）晚期病例的临床资料很少，特别是那些需要通气支持的病例。因此，本研究旨在评估nusinersen治疗对晚期1型SMA患者运动和呼吸功能的影响。方法本观察性队列研究包括2017年7月至2019年7月在兵库医科大学医学院附属医院接受永久呼吸机支持和气管切开术治疗的7例晚期1型SMA患者。主要结果是运动功能的改变，使用费城儿童医院婴儿神经肌肉疾病测试（chop - intent）评分进行评估。主观变化，不能用chop - intent测量，也被评估。次要结局包括呼吸功能的改变，通过潮气量（TV）和经皮二氧化碳（TcCO2）水平测量。结果2例患者经2 ~ 3年nusinsen治疗后chop - intent评分有明显改善（提高4分）。其余5项的变化从0到2分不等。所有患者均观察到主观变化。患者呼吸功能结局不同；TV升高2例，降低5例；TcCO2水平降低3例，升高4例。结论舒氏森对部分晚期1型SMA患者的运动功能有明显改善作用；然而，治疗效果可能需要一段时间，并且因人而异。需要进一步的研究来证实这些发现，并确定nusinersen治疗的潜在预后因素。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European Journal of Paediatric Neurology 医学-临床神经学

CiteScore

6.30

自引率

3.20%

发文量

115

审稿时长

81 days

期刊介绍： The European Journal of Paediatric Neurology is the Official Journal of the European Paediatric Neurology Society, successor to the long-established European Federation of Child Neurology Societies. Under the guidance of a prestigious International editorial board, this multi-disciplinary journal publishes exciting clinical and experimental research in this rapidly expanding field. High quality papers written by leading experts encompass all the major diseases including epilepsy, movement disorders, neuromuscular disorders, neurodegenerative disorders and intellectual disability. Other exciting highlights include articles on brain imaging and neonatal neurology, and the publication of regularly updated tables relating to the main groups of disorders.