PDF(Pubmed)
Abstract：
OBJECTIVE: This study was based on a retrospective clinical observational cohort study of a two-center application of nusinersen in China to evaluate the clinical efficacy and adverse effects of nusinersen in the treatment of SMA (spinal muscular atrophy) Types 1-3.
METHODS: Clinical data from children with clinically and genetically confirmed 5qSMA from a double center in western China (the Second Affiliated Hospital of Xi\'an Jiaotong University and the Second Hospital of West China of Sichuan University). All children were younger than 18 years of age. Patients were assessed for motor function and underwent blood and fluid tests before each nusinersen injection.
RESULTS: At 14-month follow-up, 100% of children had improved their HFMSE (Hammersmith Functional Motor Scale Expanded) score, 83.6% had improved their CHOP INTEND (Children\'s Hospital of Philadelphia Infant Test of Neuromuscular Disorders) score, and 66.6% had improved their RULM (Revised Upper Limb Module) score by ≥3 points from baseline, and their 6MWT (6-min walk test) was 216.00 ± 52.08 m longer than at baseline. The age of the child at the start of treatment was negatively correlated with the clinical efficacy of nusinersen; the younger the child, the better the response to treatment. No significant adverse effects affecting the treatment and quality of life of the child were observed during the treatment of SMA with nusinersen.
CONCLUSIONS: This study concluded that nusinersen is clinically beneficial for children with SMA in western China, with mild adverse effects.
METHODS: Clinical data from children with clinically and genetically confirmed 5qSMA from a double center in western China (the Second Affiliated Hospital of Xi\'an Jiaotong University and the Second Hospital of West China of Sichuan University). All children were younger than 18 years of age. Patients were assessed for motor function and underwent blood and fluid tests before each nusinersen injection.
RESULTS: At 14-month follow-up, 100% of children had improved their HFMSE (Hammersmith Functional Motor Scale Expanded) score, 83.6% had improved their CHOP INTEND (Children\'s Hospital of Philadelphia Infant Test of Neuromuscular Disorders) score, and 66.6% had improved their RULM (Revised Upper Limb Module) score by ≥3 points from baseline, and their 6MWT (6-min walk test) was 216.00 ± 52.08 m longer than at baseline. The age of the child at the start of treatment was negatively correlated with the clinical efficacy of nusinersen; the younger the child, the better the response to treatment. No significant adverse effects affecting the treatment and quality of life of the child were observed during the treatment of SMA with nusinersen.
CONCLUSIONS: This study concluded that nusinersen is clinically beneficial for children with SMA in western China, with mild adverse effects.
摘要：
目的：本研究基于一项回顾性的临床观察性队列研究，该研究在中国的一项双中心应用nusinersen，以评估nusinersen治疗1-3型SMA（脊髓性肌萎缩症）的临床疗效和不良反应。
方法：来自中国西部一个双中心（西安交通大学第二附属医院和四川大学华西第二医院）的临床和遗传证实的5qSMA儿童的临床数据。所有儿童均小于18岁。在每次注射nusinersen之前，对患者进行了运动功能评估，并进行了血液和液体测试。
结果：在14个月的随访中，100％的儿童改善了他们的HFMSE（哈默史密斯功能运动量表扩展）评分，83.6%的人提高了CHOPINTEND（费城儿童医院婴儿神经肌肉疾病测试）评分，66.6%的人将他们的RULM（修订的上肢模块）评分从基线提高了≥3分，他们的6MWT（6分钟步行试验）比基线长216.00±52.08m。开始治疗时儿童的年龄与nusinersen的临床疗效呈负相关；儿童年龄越小，对治疗的反应越好。在用nusinersen治疗SMA期间，未观察到影响儿童治疗和生活质量的明显不良反应。
结论：这项研究得出的结论是，nusinersen对中国西部的SMA患儿有临床益处，有轻微的不良反应。
方法：来自中国西部一个双中心（西安交通大学第二附属医院和四川大学华西第二医院）的临床和遗传证实的5qSMA儿童的临床数据。所有儿童均小于18岁。在每次注射nusinersen之前，对患者进行了运动功能评估，并进行了血液和液体测试。
结果：在14个月的随访中，100％的儿童改善了他们的HFMSE（哈默史密斯功能运动量表扩展）评分，83.6%的人提高了CHOPINTEND（费城儿童医院婴儿神经肌肉疾病测试）评分，66.6%的人将他们的RULM（修订的上肢模块）评分从基线提高了≥3分，他们的6MWT（6分钟步行试验）比基线长216.00±52.08m。开始治疗时儿童的年龄与nusinersen的临床疗效呈负相关；儿童年龄越小，对治疗的反应越好。在用nusinersen治疗SMA期间，未观察到影响儿童治疗和生活质量的明显不良反应。
结论：这项研究得出的结论是，nusinersen对中国西部的SMA患儿有临床益处，有轻微的不良反应。
