Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland—part I—systematic literature review and existing evidence

BackgroundSince the approval of onasemnogen abeparvovec (OA) for gene addition therapy in children with spinal muscular atrophy (SMA), there has been a considerable increase of evidence regarding its effectiveness and safety. Consequently, the previous recommendations needed to be revised.ObjectiveThe primary objective was to develop an evidence- and expert-based best practice protocol ensuring optimal patient safety and comprehensive support for affected families. The harmonization of treatment algorithms is expected to facilitate the collection of standardized real-world data, laying the foundation for future evidence-based adjustments.MethodsA modified, two-part Delphi process was selected as a standardized methodology. Experts specializing in SMA from all 31 neuromuscular treatment centers within Germany, Austria and Switzerland, and patient advocacy groups participated in an industry-independent Delphi panel. Existing evidence concerning effectiveness, safety, and guidelines of OA was analyzed in a systematic literature followed by development of consensus statements regarding its effectiveness.ResultsStrong consensus was reached regarding the following statements on effectiveness: (1) OA gene addition therapy for SMA demonstrates a clear advantage compared to the natural progression of the disease. (2) Superiority of any of the three approved disease-modifying therapies has not been proven. (3) Earlier initiation of therapy with fewer symptoms and shorter disease duration leads to better outcomes. (4) There is no clinical evidence supporting the superiority of combining two treatments over monotherapy.Conclusions: The systematic literature analysis constitutes the basis for the subsequent part 2, which involves the generation of expert-based recommendations for the surveillance of SMA gene addition therapy.

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Journal
Journal of Neuromuscular Diseases
Published
2025-11-24
DOI
https://doi.org/10.1177/22143602251387019
Citations
1
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
1.63
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article

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland—part I—systematic literature review and existing evidence

Ralf A. Husain, Matthias Baumann, Marina Flotats‐Bastardas, Ekkehard Wilichowski et al.
1 citations
Journal of Neuromuscular Diseases
Neurogenetic and Muscular Disorders Research
1.63
article

Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland—part I—systematic literature review and existing evidence

Ralf A. Husain, Matthias Baumann, Marina Flotats‐Bastardas, Ekkehard Wilichowski, Klaus Goldhahn, Janbernd Kirschner, Andrea Klein, Astrid Eisenkölbl, Hans Hartmann, Veronka Horber, Regina Trollmann, Andreas Ziegler, Arpad von Moers, Gert Wiegand, Georg Martin Stettner, Johannes Friese, Eva Stumpe, Gudrun Schreiber, Ulrike Schara‐Schmidt, Sabine Illsinger, Astrid Blaschek, Jessika Johannsen, Andreas Hahn, Günther Bernert, Katharina Vill, Oswald Hasselmann, Corinna Stoltenburg, Wolfgang Müller-Felber, David Jacquier, Heike Kölbel, Cornelia Köhler, Claudia Weiß, Astrid Pechmann, Oliver Schwartz, Christian Rauscher, Claudia Ganter, Joachim Sproß, Maja von der Hagen, Michael Kolodzig
article en
1 citations

Abstract

BackgroundSince the approval of onasemnogen abeparvovec (OA) for gene addition therapy in children with spinal muscular atrophy (SMA), there has been a considerable increase of evidence regarding its effectiveness and safety. Consequently, the previous recommendations needed to be revised.ObjectiveThe primary objective was to develop an evidence- and expert-based best practice protocol ensuring optimal patient safety and comprehensive support for affected families. The harmonization of treatment algorithms is expected to facilitate the collection of standardized real-world data, laying the foundation for future evidence-based adjustments.MethodsA modified, two-part Delphi process was selected as a standardized methodology. Experts specializing in SMA from all 31 neuromuscular treatment centers within Germany, Austria and Switzerland, and patient advocacy groups participated in an industry-independent Delphi panel. Existing evidence concerning effectiveness, safety, and guidelines of OA was analyzed in a systematic literature followed by development of consensus statements regarding its effectiveness.ResultsStrong consensus was reached regarding the following statements on effectiveness: (1) OA gene addition therapy for SMA demonstrates a clear advantage compared to the natural progression of the disease. (2) Superiority of any of the three approved disease-modifying therapies has not been proven. (3) Earlier initiation of therapy with fewer symptoms and shorter disease duration leads to better outcomes. (4) There is no clinical evidence supporting the superiority of combining two treatments over monotherapy.Conclusions: The systematic literature analysis constitutes the basis for the subsequent part 2, which involves the generation of expert-based recommendations for the surveillance of SMA gene addition therapy.

Journal of Neuromuscular Diseases
University of Bern (CH), Johannes Kepler University of Linz (AT), Innsbruck Medical University (AT), Universität Hamburg (DE), University of Freiburg (DE), Friedrich-Alexander-Universität Erlangen-Nürnberg (DE), Universität Innsbruck (AT), University of Zurich (CH), Heidelberg University (DE), Universitätsklinikum Gießen und Marburg (DE), Paracelsus Medical University (AT), University Hospital Bonn (DE), University Hospitals of the Ruhr-University of Bochum (DE), University Hospital of Bern (CH), University Medical Center Freiburg (DE), Medizinische Hochschule Hannover (DE), Uniwersytecki Szpital Dziecięcy (PL), Rems-Murr-Klinikum (DE), University Hospital Münster (DE), University Medical Center Hamburg-Eppendorf (DE), Children's Clinical University Hospital (LV), Universitätsmedizin Göttingen (DE), University of Education Freiburg (DE), German Cardiac Society (DE), Jena University Hospital (DE), German Liver Foundation (DE), Klinikum Kassel (DE), Asklepios Kliniken Hamburg (DE), Ostschweizer Kinderspital (CH), University of Duisburg-Essen (DE), Technische Universität Dresden (DE), Charité - Universitätsmedizin Berlin (DE), Ludwig-Maximilians-Universität München (DE), Ruhr University Bochum (DE), Saarland University (DE), University of Lausanne (CH)
Openalex Percentile: Top 12%
Neurogenetic and Muscular Disorders Research
1.63
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