Abstract：
OBJECTIVE: To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.
METHODS: Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from pediatric patients with 5q-SMA receiving nusinersen treatment across 18 centers in China. All patients fulfilling the eligibility criteria were included consecutively. Motor function outcomes were assessed post-treatment by SMA type. Safety profile was evaluated among patients starting nusinersen treatment post-enrollment. Descriptive analyses were used to report baseline characteristics, effectiveness, and safety results.
RESULTS: As of March 2nd, 2023, 385 patients were included. Most patients demonstrated improvements or stability in motor function across all SMA types. Type II patients demonstrated mean changes [95% confidence interval (CI)] of 4.4 (3.4-5.4) and 4.1 (2.8-5.4) in Hammersmith Functional Motor Scale-Expanded (HFMSE), and 2.4 (1.7-3.1) and 2.3 (1.2-3.4) in Revised Upper Limb Module (RULM) scores at months 6 and 10. Type III patients exhibited mean changes (95% CI) of 3.9 (2.5-5.3) and 4.3 (2.6-6.0) in HFMSE, and 2.1 (1.2-3.0) and 1.5 (0.0-3.0) in RULM scores at months 6 and 10. Of the 132 patients, 62.9% experienced adverse events (AEs). Two patients experienced mild AEs (aseptic meningitis and myalgia) considered to be related to nusinersen by the investigator, with no sequelae.
CONCLUSIONS: These data underscore the significance of nusinersen in Chinese pediatric patients with SMA regarding motor function improvement or stability, and support recommendations on nusinersen treatment by Chinese SMA guidelines and continuous coverage of nusinersen by basic medical insurance.
METHODS: Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from pediatric patients with 5q-SMA receiving nusinersen treatment across 18 centers in China. All patients fulfilling the eligibility criteria were included consecutively. Motor function outcomes were assessed post-treatment by SMA type. Safety profile was evaluated among patients starting nusinersen treatment post-enrollment. Descriptive analyses were used to report baseline characteristics, effectiveness, and safety results.
RESULTS: As of March 2nd, 2023, 385 patients were included. Most patients demonstrated improvements or stability in motor function across all SMA types. Type II patients demonstrated mean changes [95% confidence interval (CI)] of 4.4 (3.4-5.4) and 4.1 (2.8-5.4) in Hammersmith Functional Motor Scale-Expanded (HFMSE), and 2.4 (1.7-3.1) and 2.3 (1.2-3.4) in Revised Upper Limb Module (RULM) scores at months 6 and 10. Type III patients exhibited mean changes (95% CI) of 3.9 (2.5-5.3) and 4.3 (2.6-6.0) in HFMSE, and 2.1 (1.2-3.0) and 1.5 (0.0-3.0) in RULM scores at months 6 and 10. Of the 132 patients, 62.9% experienced adverse events (AEs). Two patients experienced mild AEs (aseptic meningitis and myalgia) considered to be related to nusinersen by the investigator, with no sequelae.
CONCLUSIONS: These data underscore the significance of nusinersen in Chinese pediatric patients with SMA regarding motor function improvement or stability, and support recommendations on nusinersen treatment by Chinese SMA guidelines and continuous coverage of nusinersen by basic medical insurance.
摘要：
目的：评价nusinersen治疗5q-脊髓性肌萎缩症(SMA)的有效性和安全性。
方法：使用纵向，多中心注册表，前瞻性和回顾性数据均来自中国18个中心接受nusinersen治疗的5q-SMA儿科患者.所有符合资格标准的患者均被连续纳入。通过SMA类型评估治疗后的运动功能结果。在入组后开始nusinersen治疗的患者中评估安全性。描述性分析用于报告基线特征，有效性,和安全结果。
结果：截至3月2日，2023年，包括385名患者。大多数患者在所有SMA类型中表现出运动功能的改善或稳定性。II型患者在Hammersmith功能运动量表扩展（HFMSE）中表现出4.4（3.4-5.4）和4.1（2.8-5.4）的平均变化[95％置信区间（CI）]，第6个月和第10个月修订的上肢模块（RULM）评分中的2.4（1.7-3.1）和2.3（1.2-3.4）。III型患者在HFMSE中表现出3.9（2.5-5.3）和4.3（2.6-6.0）的平均变化（95％CI），在第6个月和第10个月，RULM评分分别为2.1（1.2-3.0）和1.5（0.0-3.0）。在132名患者中，62.9%出现不良事件（AE）。两名患者出现轻度不良事件（无菌性脑膜炎和肌痛），研究者认为与nusinersen有关。没有后遗症.
结论：这些数据强调了nusinersen在中国小儿SMA患者中关于运动功能改善或稳定性的意义。并支持中国SMA指南对nusinersen治疗的建议，以及基本医疗保险对nusinersen的持续覆盖。
方法：使用纵向，多中心注册表，前瞻性和回顾性数据均来自中国18个中心接受nusinersen治疗的5q-SMA儿科患者.所有符合资格标准的患者均被连续纳入。通过SMA类型评估治疗后的运动功能结果。在入组后开始nusinersen治疗的患者中评估安全性。描述性分析用于报告基线特征，有效性,和安全结果。
结果：截至3月2日，2023年，包括385名患者。大多数患者在所有SMA类型中表现出运动功能的改善或稳定性。II型患者在Hammersmith功能运动量表扩展（HFMSE）中表现出4.4（3.4-5.4）和4.1（2.8-5.4）的平均变化[95％置信区间（CI）]，第6个月和第10个月修订的上肢模块（RULM）评分中的2.4（1.7-3.1）和2.3（1.2-3.4）。III型患者在HFMSE中表现出3.9（2.5-5.3）和4.3（2.6-6.0）的平均变化（95％CI），在第6个月和第10个月，RULM评分分别为2.1（1.2-3.0）和1.5（0.0-3.0）。在132名患者中，62.9%出现不良事件（AE）。两名患者出现轻度不良事件（无菌性脑膜炎和肌痛），研究者认为与nusinersen有关。没有后遗症.
结论：这些数据强调了nusinersen在中国小儿SMA患者中关于运动功能改善或稳定性的意义。并支持中国SMA指南对nusinersen治疗的建议，以及基本医疗保险对nusinersen的持续覆盖。
