利司扑兰转换治疗青少年/成人脊髓性肌萎缩症的疗效评价(附2例报告及文献复习)
Efficacy Evaluation of Switching from Nusinersen to Risdiplam for Spinal Muscular Atrophy in 2 Cases of Juvenile/Adult Spinal Muscular Atrophy and Literature Review
封玉瑶 1陶子菲 1孙倩 1董惠 1周晓萌 1刘亚玲 1刘琦1
作者信息
- 1. 河北医科大学第二医院神经内科,石家庄 050061;临床神经病学教育部重点实验室,石家庄 050061;河北省神经病学重点实验室,石家庄 050061
- 折叠
摘要
目的 报道2例青少年/成人脊髓性肌萎缩症(SMA)患者使用诺西那生鞘内注射治疗后,转换为利司扑兰治疗的疗效及安全性,为SMA患者的转换治疗提供真实世界数据.方法 收集2例SMA患者的临床资料、辅助检查及基因检测结果,评估患者换用利司扑兰前后运动及非运动功能的改善情况、不良反应、实验室指标变化,以及患者及家属的主观报告结果.结果 2例患者换用利司扑兰治疗后,运动功能及非运动功能持续改善,无明显不良反应,未见实验室指标恶化,患者和照料者对转化治疗效果满意.结论 青少年/成人SMA患者可通过利司扑兰转换治疗获益,临床耐受性好.
Abstract
Aim To report the efficacy and safety of two junvenile/adult spinal muscular atrophy(SMA)patients who switched from nusinersen to risdiplam,and provide read world evidence for clinicians and patients.Methods Clinical manifestations,examinations and genetic test results were collected.The changes of motor and non-motor function,related adverse reactions and laboratory index were evaluated before and after the treatment of risdiplam.Patients and caregivers report outcomes were collected.Results Both motor and non-motor functions continued improving after switching from nusinersen to risdiplam.No obvious adverse reactions and deterioration of laboratory indicators were reported.Patients and caregivers were satisfied with the conversion.Conclusion Junvenile/adult SMA patients can still benefit from risdiplam treatment switching from nusinersen,with good safety and tolerance.
关键词
脊髓性肌萎缩症/疾病修正治疗/诺西那生/利司扑兰Key words
spinal muscular atrophy/disease modification therapy/nusinersen/risdiplam引用本文复制引用
出版年
2024
NETL
NSTL
万方数据