Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, China.
BMC Neurol. 2023 Jan 23;23(1):35. doi: 10.1186/s12883-023-03063-3.
Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course. However, there are currently no clinical studies regarding the improvement in motor function and nutritional status of patients after loading period treatment with nusinersen. Here, we aimed to determine the efficacy of nusinersen in improving motor function and nutritional status in children with SMA treated with nusinersen after loading period in Western China.
In this retrospective study, data for all pediatric patients (aged < 18 years), with genetically confirmed diagnosis of SMA who were treated with nusinersen, were collected before initiation of treatment and after 2 months of treatment. We assessed motor function using standardized scales and nutritional status of patients with SMA as well as side effects of nusinersen.
Forty-six pediatric patients aged < 18 years were enrolled in this study. After 2 months of treatment, the motor function of patients with SMA type 1, 2, and 3 improved. The difference in Revised Upper Limb Module scores from M0 to M2 was significant in patients with SMA type 2 and 3 (P = 0.004, P = 0.042, respectively). The difference in Hammersmith Functional Motor Scale Expanded scores from M0 to M2 in patients with SMA type 2 was also significant (P = 0.000). No significant differences were found for Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorder (CHOP-INTEND), Hammersmith Infant Neurologic Examination-Part 2 (HINE-2), and 6-Minute Walking Test (6MWT) scores between M0 and M2, but the scores of CHOP-INTEND, HINE-2, and 6MWT were all increased after loading period treatment. The overall improvement in nutritional status was not statistically significant. No serious adverse effects were observed.
Our study provides evidence for the efficacy and safety of nusinersen and the nutritional status of pediatric patients with SMA after the loading period treatment. Motor function of all patients improved after 2 months of loading period nusinersen treatment. Patients with a shorter disease duration showed better response to treatment. Careful surveillance of nutritional status is needed in patients with SMA.
脊髓性肌萎缩症（SMA）是一种进行性神经肌肉退行性疾病。依洛硫酸酯酶纳注射液具有起效迅速的特点，能够使患者在治疗早期获益。然而，目前尚无临床研究报道依洛硫酸酯酶纳负荷期治疗后患者运动功能和营养状况的改善情况。因此，本研究旨在探讨依洛硫酸酯酶纳在我国西部地区治疗 SMA 患儿的疗效。
本回顾性研究纳入了所有接受依洛硫酸酯酶纳治疗的基因确诊 SMA 患儿（年龄＜18 岁）的数据。这些患儿在开始治疗前和治疗 2 个月后分别采集数据。采用标准化量表评估患儿的运动功能，同时评估 SMA 患儿的营养状况和依洛硫酸酯酶纳的不良反应。
本研究共纳入 46 例＜18 岁的患儿。治疗 2 个月后，SMA 1 型、2 型和 3 型患儿的运动功能均得到改善。SMA 2 型和 3 型患儿的修订上肢运动功能测试量表评分从 M0 到 M2 的差值具有统计学意义（P=0.004，P=0.042），SMA 2 型患儿的粗大运动功能测试量表评分从 M0 到 M2 的差值也具有统计学意义（P=0.000）。患儿的费城儿童医院婴儿神经肌肉障碍测试量表、Hammersmith 婴儿神经学检查第 2 部分和 6 分钟步行试验评分从 M0 到 M2 的差值无统计学意义，但负荷期治疗后，这些评分均升高。患儿的营养状况总体改善无统计学意义。未观察到严重的不良反应。
本研究为依洛硫酸酯酶纳治疗 SMA 患儿的疗效和安全性以及负荷期治疗后患儿的营养状况提供了证据。所有患儿在依洛硫酸酯酶纳负荷期治疗 2 个月后运动功能均得到改善，疾病持续时间较短的患儿对治疗的反应更好。需要密切监测 SMA 患儿的营养状况。
