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

Thomas Meyer*, André Maier, Zeljko Uzelac, Tim Hagenacker, René Günther, Olivia Schreiber-Katz, Markus Weiler, Robert Steinbach, Ute Weyen, Jan Christoph Koch, Dagmar Kettemann, Jenny Norden, Johannes Dorst, Claudia Wurster, Albert C. Ludolph, Benjamin Stolte, Maren Freigang, Alma Osmanovic, Susanne Petri, Julian GrosskreutzAnnekathrin Rödiger, Ramona Griep, Marcel Gaudlitz, Bertram Walter, Christoph Münch, Susanne Spittel

*Corresponding author for this work
4 Citations (Scopus)


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 < 0.001). The convenience of drug administration was critical (49.7 of 100 TSQM-9 points, SD 22); 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 durations 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.

Original languageEnglish
JournalEuropean Journal of Neurology
Issue number8
Pages (from-to)2582-2595
Number of pages14
Publication statusPublished - 08.2021

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
  • Centers: Center for Neuromuscular Diseases


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