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Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2

dc.contributor.authorAndrej Belančić
dc.contributor.authorPatrick Castillo Eustaquio
dc.contributor.authorElvira Meni Maria Gkrinia
dc.contributor.authorValentino Rački
dc.contributor.authorKristina Pilipović
dc.contributor.authorDinko Vitezić
dc.contributor.otherDepartment of Basic and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia
dc.contributor.otherIndependent Researcher, Manila 1000, Philippines
dc.contributor.otherIndependent Researcher, 11527 Athens, Greece
dc.contributor.otherDepartment of Neurology, Clinical Hospital Centre Rijeka, 51000 Rijeka, Croatia
dc.contributor.otherDepartment of Basic and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia
dc.contributor.otherDepartment of Basic and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia
dc.date.accessioned2025-08-27T14:14:03Z
dc.date.accessioned2025-10-08T08:47:34Z
dc.date.available2025-10-08T08:47:34Z
dc.date.issued01-08-2025
dc.identifier.urihttp://digilib.fisipol.ugm.ac.id/repo/handle/15717717/37257
dc.description.abstractSpinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. The past decade has witnessed a paradigm shift in SMA management with the advent of disease-modifying drugs (DMDs). This narrative review aims to (i) summarize pivotal randomized controlled trials (RCTs) that led to the approval of DMDs for SMA Types 1 and 2; (ii) synthesize real-world evidence on their safety and effectiveness; and (iii) explore emerging therapeutic frontiers, including gene modifiers, predictive biomarkers, prenatal interventions, and combination strategies. Pivotal RCTs and real-world studies demonstrate that onasemnogene abeparvovec (a single-dose gene therapy), nusinersen (an intrathecal antisense oligonucleotide), and risdiplam (an oral SMN2 splicing modifier) each significantly improve survival and motor function milestones compared to natural history in Type 1 and Type 2 SMA, with the majority of treated patients achieving independent sitting and prolonged ventilator-free survival, while safety profiles are generally manageable and distinct for each therapy. Similar outcomes have been demonstrated for presymptomatic patients with SMA. The introduction of DMDs has transformed the prognosis of SMA, particularly for early-onset forms, with robust evidence supporting their efficacy and safety. Continued real-world monitoring and exploration of adjunctive therapies are essential to optimize outcomes across the SMA setting and address unmet needs in non-responders and older patients.
dc.language.isoEN
dc.publisherMDPI AG
dc.subject.lccBiology (General)
dc.titleTransforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2
dc.typeArticle
dc.description.keywordsspinal muscular atrophy
dc.description.keywordsSMA
dc.description.keywordsdisease-modifying drugs
dc.description.keywordsnusinersen
dc.description.keywordsrisdiplam
dc.description.keywordsonasemnogene abeparvovec
dc.description.doi10.3390/biomedicines13081939
dc.title.journalBiomedicines
dc.identifier.e-issn2227-9059
dc.identifier.oaioai:doaj.org/journal:47085b5be49b41cf86e33ebbf10ff1d9
dc.journal.infoVolume 13, Issue 8


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