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.
