Patients' Perceptions of Nusinersen Effects According to Their Responder Status

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.

Keywords: nusinersen; patient perception; responder; spinal muscular atrophy; treatment response.

Figure 1

The general impression of change in quality of life. Ninety-nine patients were classified as RCS (n = 41); RNCS (n = 18); and NR (n = 40). The x-axis shows the PGIC score of 1 to 7 (with 1 being much worse, 4 being the same, and 7 being much improved). The number of patients reporting yes/no showing an improvement after 15 months following treatment initiation are in green and red, respectively. The y-axis shows the percentage of participants reporting yes/no to the presence of a symptom or difficulty at the baseline, along with their PGIC scores across the three groups. NA = not applicable. No statistical difference was found across the three patient groups.

Figure 2

Statistical differences of the PGIC scores across the three patient groups depending on the baseline question. (A) Balance while sitting; (B) function involving arm muscles; (C) function involving shoulder muscles; and (D) loudness of voice. Ninety-nine patients were classified as RCS (n = 41); RNCS (n = 18); and NR (n = 40). The x-axis shows a PGIC score of 1 to 7 (with 1 being much worse, 4 being the same, and 7 being much improved). The number of patients reporting yes/no regarding symptoms/difficulty before treatment initiation are in orange and blue, respectively. The y-axis shows the percentage of participants reporting yes/no to the presence of a symptom or difficulty at the baseline, along with their PGIC scores across the three groups. NA = not applicable. Statistical differences across the three patient groups depending on the baseline question were found for these four domains.