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Abstract：
Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I-III patients with a median age of 11.2 (0.39-57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e., those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients\' caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients\' and patients\' caregivers\' experience of the effect of nusinersen treatment in SMA.
摘要：
背景和目的：脊髓性肌萎缩症（SMA）患者接受疾病改善治疗（DMT），通常根据在经过验证的功能量表上达到特定的改善阈值，将其分为有反应者或无反应者。这种分类可能会严重影响一些国家的治疗补偿。这项研究的目的是评估被认为是应答者或非应答者的患者对治疗的看法及其益处。方法：在这项非商业多中心研究中，99名接受对症治疗后的SMAI-III型患者在治疗开始时的中位年龄为11.2岁（0.39-57.4岁），根据其治疗结果分为三组。即，那些表现出临床上显着的改善（N=41），那些没有临床显著改善的人(N=18)，或那些没有改善的（N=40）。治疗后15个月，使用基于患者总体变化印象（PGIC）量表的患者评分系统评估初始患者或患者的护理人员，包括22个问题，针对SMA患者日常生活中的重要方面和任务。结果：我们发现患者组22个领域中有17个领域的患者对治疗益处的看法没有统计学差异。结论：我们的结果表明，功能性运动量表不能概括患者和患者照顾者对nusinersen治疗SMA效果的经验。
