PDF(Pubmed)
Abstract：
UNASSIGNED: Nusinersen is the first drug approved for spinal muscular atrophy (SMA) treatment. In this study, we aimed to evaluate the long-term safety and efficacy of nusinersen, assess the therapeutic effects based on the treatment initiation timing and baseline motor function, and explore the perception of functional improvement from either parents or patients, utilizing 3-year nationwide follow-up data in South Korea.
UNASSIGNED: We enrolled patients with SMA who were treated with nusinersen under the National Health Insurance coverage, with complete motor score records available and a minimum treatment duration of 6 months. To evaluate the motor function of patients, the Hammersmith Infant Neurological Examination-2 (HINE-2) was used for type 1 and the Expanded Hammersmith Functional Motor Scale (HFMSE) was used for types 2 and 3 patients. A significant improvement was defined as a HINE-2 score gain ≥5 for patients with type 1 and an HFMSE score ≥ 3 for patients with types 2 and 3 SMA. Effects of treatment timing were assessed. Patients with type 2 were further categorized based on baseline motor scores for outcome analysis. We also analyzed a second dataset from five tertiary hospitals with the information on parents/patients-reported impressions of improvement.
UNASSIGNED: The study comprised 137 patients, with 21, 103, and 13 patients representing type 1, 2, and 3 SMA, respectively. At the 3-year follow-up, the analysis encompassed 7 patients with type 1, 12 patients with type 2, and none with type 3. Nearly half of all enrolled patients across SMA types (42.8, 59.2 and 46.2%, respectively) reached the 2-year follow-up for analysis. Patients with type 1 SMA exhibited gradual motor function improvement over 1-, 2-, and 3-year follow-ups (16, 9, and 7 patients, respectively). Patients with type 2 SMA demonstrated improvement over 1-, 2-, and 3-year follow-ups (96, 61 and 12 patients, respectively). Early treatment from symptom onset resulted in better outcomes for patients with type 1 and 2 SMA. In the second dataset, 90.7% of 108 patients reported subjective improvement at the 1-year follow-up.
UNASSIGNED: Nusinersen treatment for types 1-3 SMA is safe and effective in long-term follow-up. Early treatment initiation was a significant factor affecting long-term motor outcome.
UNASSIGNED: We enrolled patients with SMA who were treated with nusinersen under the National Health Insurance coverage, with complete motor score records available and a minimum treatment duration of 6 months. To evaluate the motor function of patients, the Hammersmith Infant Neurological Examination-2 (HINE-2) was used for type 1 and the Expanded Hammersmith Functional Motor Scale (HFMSE) was used for types 2 and 3 patients. A significant improvement was defined as a HINE-2 score gain ≥5 for patients with type 1 and an HFMSE score ≥ 3 for patients with types 2 and 3 SMA. Effects of treatment timing were assessed. Patients with type 2 were further categorized based on baseline motor scores for outcome analysis. We also analyzed a second dataset from five tertiary hospitals with the information on parents/patients-reported impressions of improvement.
UNASSIGNED: The study comprised 137 patients, with 21, 103, and 13 patients representing type 1, 2, and 3 SMA, respectively. At the 3-year follow-up, the analysis encompassed 7 patients with type 1, 12 patients with type 2, and none with type 3. Nearly half of all enrolled patients across SMA types (42.8, 59.2 and 46.2%, respectively) reached the 2-year follow-up for analysis. Patients with type 1 SMA exhibited gradual motor function improvement over 1-, 2-, and 3-year follow-ups (16, 9, and 7 patients, respectively). Patients with type 2 SMA demonstrated improvement over 1-, 2-, and 3-year follow-ups (96, 61 and 12 patients, respectively). Early treatment from symptom onset resulted in better outcomes for patients with type 1 and 2 SMA. In the second dataset, 90.7% of 108 patients reported subjective improvement at the 1-year follow-up.
UNASSIGNED: Nusinersen treatment for types 1-3 SMA is safe and effective in long-term follow-up. Early treatment initiation was a significant factor affecting long-term motor outcome.
摘要：
■Nusinersen是第一种被批准用于脊髓性肌萎缩症（SMA）治疗的药物。在这项研究中,我们的目的是评估nusinersen的长期安全性和有效性，根据治疗开始时机和基线运动功能评估治疗效果，并探索父母或患者对功能改善的看法，利用韩国3年全国随访数据。
■我们在国家健康保险范围内纳入了接受nusinersen治疗的SMA患者，提供完整的运动评分记录，最少治疗时间为6个月。评价患者的运动功能,Hammersmith婴儿神经学检查-2(HINE-2)用于1型患者,扩展Hammersmith功能运动量表(HFMSE)用于2型和3型患者。显著改善定义为1型患者的HINE-2评分增加≥5，2型和3型SMA患者的HFMSE评分≥3。评估治疗时机的影响。根据基线运动评分对2型患者进行进一步分类以进行结果分析。我们还分析了来自五家三级医院的第二个数据集，其中包含有关父母/患者报告的改善印象的信息。
■该研究包括137名患者，有21、103和13名患者代表1、2和3型SMA，分别。在3年的随访中，该分析包括7例1型患者,12例2型患者,无1例3型患者.几乎一半的SMA类型的所有登记患者（42.8、59.2和46.2％，分别)达到了2年的随访分析。1型SMA患者的运动功能逐渐改善超过1,2-,和3年随访(16、9和7例患者，分别)。2型SMA患者表现出超过1-的改善，2-,和3年随访(96、61和12例患者，分别)。对于1型和2型SMA患者，症状发作后的早期治疗可带来更好的预后。在第二个数据集中，108例患者中有90.7%在1年随访时报告主观改善。
■Nusinersen治疗1-3型SMA在长期随访中是安全有效的。早期开始治疗是影响长期运动结果的重要因素。
■我们在国家健康保险范围内纳入了接受nusinersen治疗的SMA患者，提供完整的运动评分记录，最少治疗时间为6个月。评价患者的运动功能,Hammersmith婴儿神经学检查-2(HINE-2)用于1型患者,扩展Hammersmith功能运动量表(HFMSE)用于2型和3型患者。显著改善定义为1型患者的HINE-2评分增加≥5，2型和3型SMA患者的HFMSE评分≥3。评估治疗时机的影响。根据基线运动评分对2型患者进行进一步分类以进行结果分析。我们还分析了来自五家三级医院的第二个数据集，其中包含有关父母/患者报告的改善印象的信息。
■该研究包括137名患者，有21、103和13名患者代表1、2和3型SMA，分别。在3年的随访中，该分析包括7例1型患者,12例2型患者,无1例3型患者.几乎一半的SMA类型的所有登记患者（42.8、59.2和46.2％，分别)达到了2年的随访分析。1型SMA患者的运动功能逐渐改善超过1,2-,和3年随访(16、9和7例患者，分别)。2型SMA患者表现出超过1-的改善，2-,和3年随访(96、61和12例患者，分别)。对于1型和2型SMA患者，症状发作后的早期治疗可带来更好的预后。在第二个数据集中，108例患者中有90.7%在1年随访时报告主观改善。
■Nusinersen治疗1-3型SMA在长期随访中是安全有效的。早期开始治疗是影响长期运动结果的重要因素。
