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European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

J. Kirschner, N. Butoianu, N. Goemans, J. Haberlova, A. Kostera-Pruszczyk, E. Mercuri, WL. van der Pol, S. Quijano-Roy, T. Sejersen, EF. Tizzano, A. Ziegler, L. Servais, F. Muntoni

. 2020 ; 28 (-) : 38-43. [pub] 20200709

Jazyk angličtina Země Velká Británie

Typ dokumentu konsensus - konference, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc21012193

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.

Citace poskytuje Crossref.org

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$a Spinal muscular atrophy (SMA) used to be one of the most common genetic causes of infant mortality. New disease modifying treatments have changed the disease trajectories and most impressive results are seen if treatment is initiated in the presymptomatic phase of the disease. Very recently, the European Medicine Agency approved Onasemnogene abeparvovec (Zolgensma®) for the treatment of patients with SMA with up to three copies of the SMN2 gene or the clinical presentation of SMA type 1. While this broad indication provides new opportunities, it also triggers discussions on the appropriate selection of patients in the context of limited available evidence. To aid the rational use of Onasemnogene abeparvovec for the treatment of SMA, a group of European neuromuscular experts presents in this paper eleven consensus statements covering qualification, patient selection, safety considerations and long-term monitoring.
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$a Butoianu, Nina $u Pediatric Neurology Clinic, "Prof. Dr. Al. Obregia" Hospital, Bucharest, Faculty of Medicine and Pharmacy "Carol Davila", Bucharest, Romania. Electronic address: nbutoianu91@gmail.com
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$a Goemans, Nathalie $u Dept of Pediatric Neurology, University Hospitals Leuven, Belgium. Electronic address: nathalie.goemans@uzleuven.be
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$a Haberlova, Jana $u Dept of Pediatric Neurology, Motol University Hospital, Prague, Czech Republic. Electronic address: Jana.Haberlova@fnmotol.cz
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$a Kostera-Pruszczyk, Anna $u Department of Neurology, Medical University of Warsaw, Poland. Electronic address: anna.kostera-pruszczyk@wum.edu.pl
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$a Mercuri, Eugenio $u Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address: eumercuri@gmail.com
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$a van der Pol, W Ludo $u Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, the Netherlands. Electronic address: W.L.vanderPol@umcutrecht.nl
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$a Quijano-Roy, Susana $u Neuromuscular Unit, Child Neurology and ICU Department, Raymond Poincaré University Hospital (UVSQ), APHP Paris Saclay, Garches, France. Electronic address: susana.quijano-roy@aphp.fr
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$a Sejersen, Thomas $u Department of Womeńs and Childreńs Health, Karolinska Institutet, Stockholm, Sweden. Electronic address: thomas.sejersen@ki.se
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$a Tizzano, Eduardo F $u Department of Clinical and Molecular Genetics, Medicine Genetics Group, University Hospital Vall d'Hebron, Barcelona, Spain. Electronic address: etizzano@vhebron.net
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$a Ziegler, Andreas $u Department of Neuropediatrics and Metabolic Medicine, Centre for Childhood and Adolescent Medicine, University Hospital Heidelberg, Germany. Electronic address: andreas.ziegler@med.uni-heidelberg.de
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$a Servais, Laurent $u University of Liège, Neuromuscular Reference Center Disease, Department of Pediatrics, Liege, Belgium; MDUK Neuromuscular Center, Department of Pediatrics, University of Oxford, UK. Electronic address: laurent.servais@paediatrics.ox.ac.uk
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$a Muntoni, Francesco $u Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre, Great Ormond Street Hospital for Children, London, UK. Electronic address: f.muntoni@ucl.ac.uk
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