Motor function and safety of nusinersen for spinal muscular atrophy: a systematic review and meta-analysis among Chinese patients

Background This study aimed to perform a systematic review and meta-analysis to evaluate motor function and safety outcomes in Chinese patients with spinal muscular atrophy (SMA) treated with nusinersen. Methods We searched across multiple databases, including PubMed, Cochrane, Embase, Web of Science, CNKI, CBM, Wanfang, and VIP, for real-world studies (RWS) published before 15 February 2026. Data extraction is performed based on predefined study selection and eligibility criteria, while excluding studies involving non-Chinese populations. Results 24 RWS were included in this analysis, comprising 1,273 Chinese patients with SMA Types 1–4 treated with nusinersen. Statistically significant improvements were found in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) [Mean Difference (MD) = 6.57 (95% CI: 4.35–8.80)], Hammersmith Infant Neurological Examination Section 2 (HINE-2) [MD = 2.05 (95% CI: 0.94–3.16)], Hammersmith Functional Motor Scale Expanded (HFMSE) [MD = 4.71 (95% CI: 3.10–6.32)], Revised Upper Limb Module (RULM) [MD = 3.70 (95% CI: 2.47–4.93)], and the 6-minute walk test (6MWT) [MD = 24.96 m (95% CI: 16.20–33.72)] at the end of the follow-up period. In terms of clinical response rate, CHOP-INTEND (≥4 points) was 71.80% (95%CI: 56.14%–85.65%), HFMSE (≥3 points) was 59.71%(95%CI: 43.79%–74.74%), RULM(≥2 points) was 60.35% (95%CI:48.67%–71.51%), respectively. As treatment duration increased, motor function scores and clinical response rates either improved or stabilized. When the treatment duration reached ≥14 months, the pooled mean change from baseline was as follows: CHOP-INTEND [MD = 9.45 (95% CI: 5.03–13.87)], HFMSE [MD = 4.37 (95% CI: 3.34–5.40)]], and RULM [MD = 2.83 (95% CI: 1.97–3.68)]. Clinical response rates were: 76.41% (95% CI: 52.89%–94.57%) for CHOP-INTEND, 69.83% (95% CI: 48.60%–87.61%) for HFMSE, and 63.23% (95% CI: 45.86%–79.13%) for RULM. The overall adverse event (AE) rate was 41.27% (95% CI: 29.65%–53.38%), with serious AEs occurring in 1.26% (95% CI: 0%–5.85%) of Chinese patients. The most common AEs were headache, back pain, and post-lumbar puncture syndrome, associated with the lumbar puncture administration method. Conclusion Our meta-analysis indicates that nusinersen is associated with a statistically significant and clinically meaningful improvement in motor function among Chinese patients with types 1–4 SMA in real-world studies. The reported adverse events align with the expected safety profile of nusinersen. However, the majority of studies included in this review had a follow-up period of less than 24 months. Therefore, further long-term follow-up is necessary to assess the sustained therapeutic effects of nusinersen in Chinese patients with SMA. Systematic Review Registration https://www.crd.york.ac.uk/PROSPERO/view/CRD42023403580 , PROSPERO CRD42023403580.