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

Spinal 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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Biomedicines
المؤلفون الرئيسيون:	Andrej Belančić, Patrick Castillo Eustaquio, Elvira Meni Maria Gkrinia, Valentino Rački, Kristina Pilipović, Dinko Vitezić
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	MDPI AG 2025-08-01
الموضوعات:	spinal muscular atrophy SMA disease-modifying drugs nusinersen risdiplam onasemnogene abeparvovec
الوصول للمادة أونلاين:	https://www.mdpi.com/2227-9059/13/8/1939

مواد مشابهة

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
حسب: Ramos-Platt L, وآخرون
منشور في: (2022-09-01)

Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs
حسب: Carmen Leon-Astudillo, وآخرون
منشور في: (2022-12-01)

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy
حسب: Megan A. Waldrop
منشور في: (2024-07-01)

Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil
حسب: Ana Letícia Amorim de Albuquerque, وآخرون
منشور في: (2025-01-01)

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients
حسب: Stephanie Voight, وآخرون
منشور في: (2024-04-01)

2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia
حسب: Fahad A. Bashiri, وآخرون
منشور في: (2021-05-01)

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy
حسب: Pankaj Bagga, وآخرون
منشور في: (2024-05-01)

Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies
حسب: Leen Lagae, وآخرون
منشور في: (2024-03-01)

Non-Invasive Spinal Cord Stimulation for Motor Rehabilitation of Patients with Spinal Muscular Atrophy Treated with Orphan Drugs
حسب: Anton Novikov, وآخرون
منشور في: (2024-05-01)

Reduction in Perioperative Risk in Patients with Spinal Muscular Atrophy Following the Release of Disease-Modifying Therapies: An Analysis of the National Surgical Quality Improvement Program Database
حسب: Erin Toaz, وآخرون
منشور في: (2025-09-01)

Diverging Safety Signals: A Trend Analysis of Suspected Adverse Drug Reactions Reporting for Spinal Muscular Atrophy Therapies in the European Union
حسب: Andrej Belančić, وآخرون
منشور في: (2025-10-01)

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England
حسب: Diana Weidlich, وآخرون
منشور في: (2023-05-01)

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حسب: Salvatore Crisafulli, وآخرون
منشور في: (2023-10-01)

Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi
حسب: Marina Flotats-Bastardas, وآخرون
منشور في: (2023-12-01)

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series
حسب: Melissa D. Svoboda, وآخرون
منشور في: (2025-07-01)

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حسب: Arianna Vezzoli, وآخرون
منشور في: (2025-08-01)

Spinal muscular atrophy - onasemnogene abeparvovec and other therapeutic options
حسب: Aleksandra Alicja Majchrzak-Celińska, وآخرون
منشور في: (2020-02-01)

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals
حسب: Ian R. Woodcock, وآخرون
منشور في: (2025-04-01)

Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports
حسب: Tomoko Mizuno, وآخرون
منشور في: (2023-10-01)

The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review
حسب: Claudia Dosi, وآخرون
منشور في: (2024-02-01)

Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study
حسب: Mohammad Ala’ Alajjuri, وآخرون
منشور في: (2024-08-01)

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies
حسب: Panagiota Panagiotou, وآخرون
منشور في: (2022-08-01)

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
حسب: Edmar Zanoteli, وآخرون
منشور في: (2024-01-01)

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
حسب: Regina Trollmann, وآخرون
منشور في: (2024-09-01)

ID182 Eficácia e efetividade do nusinersena, risdiplam e onasemnogeno abeparvoveque para o tratamento de atrofia muscular espinhal (AME) 5q tipos I e II em relação ao número de cópias do gene SMN2
حسب: Roberto Lúcio Muniz Júnior, وآخرون
منشور في: (2024-11-01)

Real-world outcomes of spinal muscular atrophy treatment with onasemnogene abeparvovec in Croatia: a comprehensive case series and literature review
حسب: Ivan Lehman, وآخرون
منشور في: (2025-06-01)

Evaluating Therapeutic Outcomes in Spinal Muscular Atrophy: An Indian Experience
حسب: Smilu Mohanlal, وآخرون
منشور في: (2025-07-01)

An updated cost-utility model for onasemnogene abeparvovec (Zolgensma®) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER)
حسب: Rebecca Dean, وآخرون
منشور في: (2021-01-01)

Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients
حسب: Daniel C. Malone, وآخرون
منشور في: (2019-01-01)

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyResearch in context
حسب: Claudia Weiß, وآخرون
منشور في: (2024-12-01)

Costs of Treating Onasemnogene Abeparvovec‐Xioi‐Induced Liver Injury
حسب: Andrej Belančić, وآخرون
منشور في: (2025-06-01)

Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study
حسب: Georg M. Stettner, وآخرون
منشور في: (2023-02-01)

Safety and Efficacy of Nusinersen and Risdiplam for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
حسب: Yue Qiao, وآخرون
منشور في: (2023-10-01)

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
حسب: Katarzyna Kotulska, وآخرون
منشور في: (2021-10-01)

Subacute liver injury in two young infants following gene replacement therapy for spinal muscular atrophy
حسب: Cassie Ables, وآخرون
منشور في: (2024-09-01)

Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol
حسب: Leandra A. A. Ros, وآخرون
منشور في: (2023-04-01)

Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China
حسب: Dingding Zhang, وآخرون
منشور في: (2025-10-01)

Expanding the Availability of Onasemnogene Abeparvovec to Older Patients: The Evolving Treatment Landscape for Spinal Muscular Atrophy
حسب: Charlotte A. René, وآخرون
منشور في: (2023-06-01)

Short-Term Safety and Efficacy of Onasemnogene Abeparvovec in 10 Patients with Spinal Muscular Atrophy: Cohort Study
حسب: Kristina S. Nevmerzhitskaya, وآخرون
منشور في: (2021-12-01)

Health economic evaluation of risdiplam in patients with spinal muscular atrophy
حسب: А. S. Kolbin, وآخرون
منشور في: (2021-10-01)