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

OBJECTIVE 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 9 SMA centers in Germany. The functional status, treatment expectations and perceived outcomes were assessed using the ALS Functional Rating Scale extended (ALS-FRS-ex), Measure Yourself Medical Outcome Profile (MYMOP2), Treatment Satisfaction Questionnaire for Medication (TSQM 9) and Net Promoter Score (NPS). RESULTS 151 patients were included with a median age of 36 years (15 to 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 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<0.001). Convenience of drug administration was critical (49.7 of 100 TSQM-9 points, SD 2), however the overall treatment satisfaction was high (74.3, SD 18) and the recommendation rating very positive (NPS +66). CONCLUSIONS Nusinersen was administered across a broad range of ages, disease duration and motor function deficits. Treatment expectations were highly differentiated and related to SMA type and functional status. Patient-reported outcomes demonstrated a positive perception of nusinersen therapy in adult patients with 5q-SMA.