Kirschner, Janbernd; Bernert, Günther; Butoianu, Nina; De Waele, Liesbeth; Fattal-Valevski, Aviva; Haberlova, Jana; Moreno, Teresa; Klein, Andrea; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F; van der Pol, W Ludo; Wallace, Sean; Zafeiriou, Dimitrios; Ziegler, Andreas; Muntoni, Francesco; Servais, Laurent (2024). 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. European journal of paediatric neurology, 51, pp. 73-78. Elsevier 10.1016/j.ejpn.2024.06.001
|
Text
1-s2.0-S1090379824000874-main.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (463kB) | Preview |
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.
Item Type: |
Journal Article (Review Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Neuropaediatrics 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Klein, Andrea Katharina |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1090-3798 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
18 Jun 2024 14:10 |
Last Modified: |
28 Jul 2024 00:16 |
Publisher DOI: |
10.1016/j.ejpn.2024.06.001 |
PubMed ID: |
38878702 |
Uncontrolled Keywords: |
Adeno-associated viral vector Disease modifying treatment Effectiveness Gene therapy Newborn screening Onasemnogene abeparvovec Safety Spinal muscular atrophy Survival motor neuron gene Zolgensma® |
BORIS DOI: |
10.48350/197867 |
URI: |
https://boris.unibe.ch/id/eprint/197867 |
Actions (login required)
 |
Edit item |