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Background <p>Risdiplam has broadened therapeutic options for spinal muscular atrophy (SMA). While its efficacy and safety are well established in children, data in adults remain limited. This review summarizes current evidence on risdiplam use in the adult SMA population.</p> Methods <p>Following PRISMA 2020 guidelines, we systematically reviewed PubMed, Scopus, and the Cochrane Library up to September 2025 for studies including risdiplam-treated adults (≥ 18&#xa0;years). Outcomes were summarized across motor, bulbar, respiratory, patient-reported, safety, and adherence domains.</p> Results <p>Fourteen studies (&gt; 200 adults, mainly SMA types 2 and 3) were included. Most participants were non-ambulant and treatment naïve. Motor function was generally stable, with modest yet significant improvements on RULM, HFMSE, or MFM-32, particularly among younger/less severely affected adults. Swallowing, speech, and fatigue often improved even in advanced disease. Patient-reported outcomes consistently indicated perceived gains in quality of life across all phenotypes. Adverse events were mostly mild and transient—mainly gastrointestinal symptoms, photosensitivity, or liver enzyme elevations—with very few temporary discontinuations.</p> Conclusions <p>Risdiplam shows a favorable safety profile and provides both disease stabilization and multidimensional benefits across all functional phenotypes in adults with SMA, although further longitudinal studies using standardized outcome measures are needed to clarify its long-term impact.</p>

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Safety and effectiveness of risdiplam in adults with spinal muscular atrophy: a systematic review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月8日

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  • Paolo Alonge,
  • Guido Urbano,
  • Giulio Gadaleta

摘要

Background

Risdiplam has broadened therapeutic options for spinal muscular atrophy (SMA). While its efficacy and safety are well established in children, data in adults remain limited. This review summarizes current evidence on risdiplam use in the adult SMA population.

Methods

Following PRISMA 2020 guidelines, we systematically reviewed PubMed, Scopus, and the Cochrane Library up to September 2025 for studies including risdiplam-treated adults (≥ 18 years). Outcomes were summarized across motor, bulbar, respiratory, patient-reported, safety, and adherence domains.

Results

Fourteen studies (> 200 adults, mainly SMA types 2 and 3) were included. Most participants were non-ambulant and treatment naïve. Motor function was generally stable, with modest yet significant improvements on RULM, HFMSE, or MFM-32, particularly among younger/less severely affected adults. Swallowing, speech, and fatigue often improved even in advanced disease. Patient-reported outcomes consistently indicated perceived gains in quality of life across all phenotypes. Adverse events were mostly mild and transient—mainly gastrointestinal symptoms, photosensitivity, or liver enzyme elevations—with very few temporary discontinuations.

Conclusions

Risdiplam shows a favorable safety profile and provides both disease stabilization and multidimensional benefits across all functional phenotypes in adults with SMA, although further longitudinal studies using standardized outcome measures are needed to clarify its long-term impact.