2024 update: European consensus statement on gene therapy for spinal muscular atrophy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10481304" target="_blank" >RIV/00064203:_____/24:10481304 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/24:10481304
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ZOTQyw1.Fl" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=ZOTQyw1.Fl</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ejpn.2024.06.001" target="_blank" >10.1016/j.ejpn.2024.06.001</a>
Alternative languages
Result language
angličtina
Original language name
2024 update: European consensus statement on gene therapy for spinal muscular atrophy
Original language description
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(R)), 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Paediatric Neurology
ISSN
1090-3798
e-ISSN
1532-2130
Volume of the periodical
51
Issue of the periodical within the volume
July
Country of publishing house
GB - UNITED KINGDOM
Number of pages
6
Pages from-to
73-78
UT code for WoS article
001261143900001
EID of the result in the Scopus database
2-s2.0-85195880709