Cover Image

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Kirschner, Janbernd (Author) , Butoianu, Nina (Author) , Goemans, Nathalie (Author) , Haberlova, Jana (Author) , Kostera-Pruszczyk, Anna (Author) , Mercuri, Eugenio (Author) , van der Pol, W. Ludo (Author) , Quijano-Roy, Susana (Author) , Sejersen, Thomas (Author) , Tizzano, Eduardo F. (Author) , Ziegler, Andreas (Author) , Servais, Laurent (Author) , Muntoni, Francesco (Author)
Format: Article (Journal)
Language:English
Published: 9 July 2020
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
Get full text
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
Description
Summary: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.
Item Description:Gesehen am 11.01.2021
Physical Description:Online Resource
ISSN:1532-2130
DOI:10.1016/j.ejpn.2020.07.001

Similar Items