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.

Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a dis-ease-modifying therapy (DMT) are often classified as responders or non-responders based on at-tainment 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 treatment benefit by patients considered as responder or non-responder. 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 show-ing no improvement (N=40). Fifteen months after treatment initiation patients or patients’ care-givers 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 patient perception of treatment benefit in 17 out of 22 domains across patient groups. Conclusion: Our results suggest that functional motor scales do not recapitulate patients and pa-tients’ caregivers experience about the effect of nusinersen treatment in SMA.

Design: The landscape of spinal muscular atrophy drastically changed following the introduction of disease-modifying therapies, emphasizing the need for comprehensive rehabilitation strategies to maximize functional outcomes. Our aim is to identify the barriers faced by healthcare professionals in conducting rehabilitation research for spinal muscular atrophy and suggest potential solutions to increase evidence-based care. Methods: We performed a narrative review of rehabilitation intervention studies with a quality assessment focusing on the research characteristics of each study and an international survey questioning healthcare professionals on their major areas of difficulty in conducting interventional studies. Results: The review highlighted a predominantly low to unacceptable quality of the 36 retained studies across four healthcare professional domains responsible for rehabilitation: physiotherapy/physical therapy (18), occupational therapy (4), respiratory therapy (10), and speech and language therapy/speech language pathology (4). The survey was completed by 204 health care providers from 35 countries. Funding was found to be the most significant barrier to rehabilitation research, followed by study design and recruitment challenges. Conclusion: Our findings highlight the urgent need for randomized controlled trials and standardized methodologies to develop robust, evidence-based multi-disciplinary rehabilitation strategies that better support individuals with spinal muscular atrophy in achieving optimal functional outcomes in the era of disease-modifying treatments.