Risdiplam 5mg tablets

Abstract 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.

Abstract licence: CC BY 4.0

With multiple disease-modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events. This systematic literature review aimed to synthesize existing evidence on therapy switching in SMA, focusing on clinical effectiveness and practical implications to support evidence-informed decision-making in a rapidly evolving therapeutic landscape. The review followed PRISMA guidelines and was registered with PROSPERO (CRD42024600221). A systematic search of PubMed/MEDLINE, Global Health and Embase was conducted between 11 and 14 October 2024. Eligible studies included clinical trials and real-world evidence (RWE) reports describing patients with genetically confirmed SMA who received nusinersen or risdiplam and subsequently switched to nusinersen, risdiplam or onasemnogene abeparvovec. Four studies met the inclusion criteria-three RWE studies and one clinical trial. The variability in measures of central tendency and variability among studies precluded the calculation of pooled summary values. Nonetheless, switching treatments was generally associated with stable motor function, with some improvements reported in selected outcome measures; ventilatory and nutritional support requirements remained largely unchanged. However, long-term outcomes and standardized data were limited. Future research should prioritize robust RWE and post-marketing surveillance to evaluate long-term safety and effectiveness, incorporate standardized switching protocols, and account for SMA genotype-phenotype variation.

Abstract licence: CC BY-NC

Adult SMA REACH is a Research and Clinical Hub in the UK that established a collaborative clinical network for Spinal Muscular Atrophy (SMA) in 2020 across 19 clinical sites, patient advocacy groups, regulators, and industry. In recent years, the treatment landscape in the SMA setting has rapidly evolved with Nusinersen and Risdiplam receiving conditional approval via a Managed Access Agreement (MAA) in the UK. Here we describe the structure of a Real-World Data (RWD) collection study implemented to collect standardised outcome measures to inform on the natural history of the disease and the impact of novel treatments. The study also reports data to The National Institute for Health and Care Excellence (NICE) and NHS England (NHSE) for the purpose of the MAA's. The Adult SMA REACH database currently contains data from 466 patients and 2255 visits, with more than 8000 functional outcome measure assessments. Adult SMA REACH provides insights into how real-world data can be used to evaluate treatment outcomes in rare diseases, where conducting randomised controlled trials may be difficult. The registry also offers an infrastructure that supports collaborative research and reduces data silos. In this paper we describe the complexity of establishing such a study and clinical network including considerations for adapting this model to other disease areas. Further information on the Adult SMA REACH data collection study and clinical network can be found on the website (https://adultsmareach.co.uk/) and ClinicalTrials.gov (NCT06978985, https://clinicaltrials.gov/study/NCT06978985).

Abstract licence: CC BY-NC