European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
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 Eur...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
9 July 2020
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| In: |
European journal of paediatric neurology
Year: 2020, Volume: 28, Pages: 38-43 |
| ISSN: | 1532-2130 |
| DOI: | 10.1016/j.ejpn.2020.07.001 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ejpn.2020.07.001 Verlag, lizenzpflichtig, Volltext: http://www.sciencedirect.com/science/article/pii/S1090379820301422 
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| Author Notes: | Janbernd Kirschner, Nina Butoianu, Nathalie Goemans, Jana Haberlova, Anna Kostera-Pruszczyk, Eugenio Mercuri, W. Ludo van der Pol, Susana Quijano-Roy, Thomas Sejersen, Eduardo F. Tizzano, Andreas Ziegler, Laurent Servais, Francesco Muntoni |
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| 520 | |a 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. | ||
| 650 | 4 | |a Gene therapy | |
| 650 | 4 | |a Nusinersen | |
| 650 | 4 | |a Onasemnogene abeparvovec | |
| 650 | 4 | |a SMN1 | |
| 650 | 4 | |a SMN2 | |
| 650 | 4 | |a Spinal muscular atrophy | |
| 650 | 4 | |a Zolgensma | |
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