Nusinersen 12mg/5ml solution for injection vials

BACKGROUND: Feeding and swallowing deficits are reported across the spectrum of spinal muscular atrophy (SMA), with more profound symptoms associated with more severe disease. Patients treated with disease-modifying therapies (DMTs) demonstrate significantly improved life expectancy and motor function relative to untreated counterparts; however, limited data exist regarding the impact of DMTs on bulbar integrity, with evidence suggesting bulbar symptoms may persist, even when motor function has improved. This systematic literature review was conducted to identify assessments used to evaluate swallowing in patients with SMA treated with DMTs, and to describe the impact of DMTs on swallowing and feeding outcomes. Embase, MEDLINE, and Cochrane central were searched from May 2021 to February 2024 for studies reporting swallowing and feeding outcomes in patients treated with nusinersen, onasemnogene abeparvovec, and risdiplam. RESULTS: Seventy-one studies were included. The majority of studies (99%, n = 71) reported functional swallow outcomes, such as oral intake status or patient-reported outcomes, and only 19% reported results from clinician-administered assessments. Results from imaging assessments were rarely reported (5%, n = 4 studies). Only 68% of studies reported results from both pre- and post-treatment assessments. Patients who received DMT prior to symptom onset were found to have good functional outcomes, with 84–100% receiving full oral nutrition. Treatment after symptom onset yielded variable results, with trends suggesting that treatment outcomes are influenced by the level of impairment at baseline and the type of swallowing assessment used. The ability to maintain pre-treatment swallow integrity was variable across studies. CONCLUSION: Although evidence suggests that DMTs can preserve or improve bulbar function in SMA, swallowing and feeding are not regularly or homogeneously assessed across the literature, making comparisons across studies difficult. Standardised and validated assessments of swallowing physiology and swallowing function are needed to understand what factors may influence bulbar outcomes with DMTs.

Abstract licence: CC BY

BackgroundThis 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.MethodsWe 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.Results24 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.ConclusionOur 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 registrationhttps://www.crd.york.ac.uk/PROSPERO/view/CRD42023403580, PROSPERO CRD42023403580.

Abstract licence: CC BY