Abstract
; Background Nusinersen recently became available as the first treatment for Spinal Muscular Atrophy (SMA) and data on
; its effectiveness and safety in adult SMA patients are still scarce.
; Methods We evaluated the effectiveness and safety of nusinersen treatment during 14 months in 16 adult patients with SMA
; types 3 and 4 in a prospective study, and retrospectively detailed the natural history of 48 adult SMA patients types 2, 3 and 4.
; Results Hand grip strength (p = 0.03), hand motor function (p = 0.04) as assessed by a sub-score of the Revised Upper
; Limb Module (RULM) and the Medical Research Council (MRC) sum score (p = 0.04) improved significantly at month 14.
; Importantly, the MRC sum score had declined significantly (p < 0.01) prior to start of treatment in these patients. A minimal
; clinically important difference (MCID) in the Hammersmith Functional Motor Scale Expanded (HFMSE) and RULM scores
; was achieved in 31% and 50% of the patients, respectively, but the mean changes from baseline failed to reach significance.
; Forced Vital Capacity (FVC) transiently increased at month 6 (p = 0.01), whereas the Peak Expiratory Flow (PEF) did not.
; The Activity Limitations scale declined significantly prior to start of treatment (p < 0.01) and showed an improvement with
; nusinersen which was not significant. The safety evaluation did not reveal serious adverse events and no signs of nephrotoxicity
; or antisense oligonucleotide (ASO)-mediated inflammation.
; Conclusions We conclude that hand grip strength and hand motor function, as well as MRC sum scores improved significantly
; in nusinersen-treated adult patients with SMA types 3 and 4.