Summary

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• This summary is based on the review of 21 systematic review(s)/meta-analysis(es). ^[1-21]
• Motor Function Outcomes: Nusinersen led to significant motor function improvements in spinal muscular atrophy (SMA) patients, with a mean increase of 2.3 points on the Hammersmith Functional Motor Scale-Expanded (HFMSE) at 18 months (95% confidence interval (CI): 1.3-3.3), with 32.1% (95% CI: 21.7-44.6) achieving a clinically meaningful increase of ≥3 points. A Weighted Mean Difference (WMD) of 4.90 (95% CI: 3.17, 6.63; p < 0.00001) was also observed in HFMSE scores.
• Upper Limb and Walking Function: Nusinersen improved upper limb motor function with a mean Revised Upper Limb Module (RULM) score increase of 1.1 points at 14 months (95% CI: 0.7-1.4), with 38.3% showing a clinically meaningful improvement of ≥2 points. Additionally, the Six-Minute Walk Test (6MWT) revealed a mean increase of 25.0 meters at 14 months (95% CI: 8.9-41.2), with 50.9% achieving a clinically meaningful improvement of ≥30 meters.
• Survival Motor Neuron (SMN)-Related Outcomes in Infants: Among infants with SMA Type I, 37% showed motor milestone improvements on the Hammersmith Infant Neurological Examination-Section 2 (HINE-2), contrasting with 0% in the control group. Nusinersen treatment also supported the development of motor milestones like head control and independent sitting.
• Comparative Efficacy with Risdiplam and Onasemnogene Abeparvovec: Risdiplam improved HFMSE scores with a WMD of 0.87 (95% CI: 0.05-1.68; p = 0.04) and also demonstrated gains on the 32-item Motor Function Measure (MFM32) (WMD: 1.48; 95% CI: 0.58-2.38; p = 0.001). Onasemnogene abeparvovec, particularly when administered presymptomatically, showed benefits in event-free survival and motor milestone achievements compared to nusinersen.
• Overall Adverse Event Rate: Adverse events occurred in 83.51% of patients treated with nusinersen (95% CI: 73.55%-93.46%), with serious AEs reported in 33.04% (95% CI: 18.15%-49.91%). The most common AEs included fever (40.07%, 95% CI: 25.14%-56.02%), upper respiratory tract infection (39.94%, 95% CI: 29.43%-50.94%), and pneumonia (26.62%, 95% CI: 17.99%-36.25%).
• Serious Adverse Events (SAEs) and Mortality: Compared to placebo, nusinersen treatment was associated with a significant reduction in SAEs (odds ratio (OR): 0.47, 95% CI: 0.32-0.69, p < 0.01) and lower rates of fatal adverse events (OR: 0.37, 95% CI: 0.23-0.59, p < 0.01).
• Comparison to Risdiplam in Children and Adolescents: Nusinersen had a similar incidence of adverse events to risdiplam, with observed reductions in common, serious, and fatal AEs in children and adolescents with SMA.
• In specific population groups, nusinersen demonstrated stability or modest improvement in motor function among adolescents and adults, with less severely affected individuals showing greater gains. In presymptomatic infants, early treatment led to improved motor milestone achievements, and among children with SMA Types II and III, younger patients with shorter disease duration experienced enhanced motor function outcomes.