Spinal muscular atrophy (SMA) used to be one of the most common genetic causes of infant mortality. New disease modifying treatments have changed the disease trajectories and most impressive results are seen if treatment is initiated in the presymptomatic phase of the disease. Very recently, the European Medicine Agency approved Onasemnogene abeparvovec (Zolgensma®) for the treatment of patients with SMA with up to three copies of the SMN2 gene or the clinical presentation of SMA type 1. While this broad indication provides new opportunities, it also triggers discussions on the appropriate selection of patients in the context of limited available evidence. To aid the rational use of Onasemnogene abeparvovec for the treatment of SMA, a group of European neuromuscular experts presents in this paper eleven consensus statements covering qualification, patient selection, safety considerations and long-term monitoring.

• Klíčová slova
• Gene therapy, Nusinersen, Onasemnogene abeparvovec, SMN1, SMN2, Spinal muscular atrophy, Zolgensma,
• MeSH
• biologické přípravky terapeutické užití   MeSH
• genetická terapie metody   MeSH
• kojenec MeSH
• konsensus MeSH
• lidé MeSH
• rekombinantní fúzní proteiny terapeutické užití   MeSH
• spinální svalová atrofie genetika   terapie   MeSH
• výběr pacientů MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• konsensus - konference MeSH
• Názvy látek
• biologické přípravky MeSH
• rekombinantní fúzní proteiny MeSH
• Zolgensma MeSH Prohlížeč

Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the disease trajectories and outcome for severely affected infants (SMA type 1), especially when initiated in the presymptomatic phase. One of these treatments is the adeno-associated viral vector 9 (AAV9) based gene therapy onasemnogene abeparvovec (Zolgensma®), which is delivered systemically and has been approved by the European Medicine Agency for SMA patients with up to three copies of the SMN2 gene or with the clinical presentation of SMA type 1. While this broad indication provides flexibility in patient selection, it also raises concerns about the risk-benefit ratio for patients with limited or no evidence supporting treatment. In 2020, we convened a European neuromuscular expert working group to support the rational use of onasemnogene abeparvovec, employing a modified Delphi methodology. After three years, we have assembled a similar yet larger group of European experts who assessed the emerging evidence of onasemnogene abeparvovec's role in treating older and heavier SMA patients, integrating insights from recent clinical trials and real-world evidence. This effort resulted in 12 consensus statements, with strong consensus achieved on 9 and consensus on the remaining 3, reflecting the evolving role of onasemnogene abeparvovec in treating SMA.

• Klíčová slova
• Adeno-associated viral vector, Disease modifying treatment, Effectiveness, Gene therapy, Newborn screening, Onasemnogene abeparvovec, Safety, Spinal muscular atrophy, Survival motor neuron gene, Zolgensma®,
• MeSH
• biologické přípravky terapeutické užití   MeSH
• genetická terapie * metody   MeSH
• konsensus MeSH
• lidé MeSH
• rekombinantní fúzní proteiny MeSH
• spinální svalová atrofie * terapie   genetika   MeSH
• spinální svalové atrofie v dětství terapie   genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• biologické přípravky MeSH
• rekombinantní fúzní proteiny MeSH
• Zolgensma MeSH Prohlížeč