Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen

Background and purpose This was an investigation of treatment expectations and of the perception of therapy in adult patients with 5q‐associated spinal muscular atrophy (5q‐SMA) receiving nusinersen. Methods A prospective, non‐interventional observational study of nusinersen treatment in adult 5q‐SMA patients was conducted at nine SMA centers in Germany. The functional status, treatment expectations and perceived outcomes were assessed using the Amyotrophic Lateral Sclerosis Functional Rating Scale—extended (ALS‐FRS‐ex), the Measure Yourself Medical Outcome Profile (MYMOP2), the Treatment Satisfaction Questionnaire for Medication (TSQM‐9) and the Net Promoter Score (NPS). Results In all, 151 patients were included with a median age of 36 years (15–69 years). SMA type 3 (n = 90, 59.6%) prevailed, followed by type 2 (33.8%) and type 1 (6.6%). In SMA types 1–3, median ALS‐FRS‐ex scores were 25, 33 and 46 (of 60 scale points), respectively. MYMOP2 identified distinct treatment expectations: head verticalization (n = 13), bulbar function (n = 16), arm function (n = 65), respiration (n = 15), trunk function (n = 34), leg function (n = 76) and generalized symptoms (n = 77). Median symptom severity decreased during nusinersen treatment (median observational period 6.1 months, 0.5–16 months) from 3.7 to 3.3 MYMOP2 score points (p