[en] We sought to devise a rational, systematic approach for defining/grouping survival motor neuron-targeted disease-modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two-part differentiation: initial DMT, and persistence/discontinuation of subsequent DMT(s). Treatment categories were identified: monotherapy add-on, transient add-on, combination with onasemnogene abeparvovec, bridging to onasemnogene abeparvovec, and switching to onasemnogene abeparvovec. We validated this approach by applying the classification to the 443 patients currently in the RESTORE registry and explored the demographics of these different groups of patients. This work forms the basis to explore the safety and efficacy profile of the different combinations of DMT in SMA.
Disciplines :
Pediatrics
Author, co-author :
Proud, Crystal M; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA
Mercuri, Eugenio; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy
Finkel, Richard S; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Kirschner, Janbernd; Department of Neuropediatrics and Muscle Disorders, Medical Center University of Freiburg, Faculty of Medicine, Freiburg, Germany
De Vivo, Darryl C; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, New York, USA
Muntoni, Francesco; The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK ; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London, UK
Saito, Kayoko; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan
Tizzano, Eduardo F; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain
Desguerre, Isabelle; Hôpital Necker Enfants Malades, APHP, Paris, France
Quijano-Roy, Susana; Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches, France
Raju, Dheeraj; Novartis Gene Therapies, Inc, Bannockburn, Illinois, USA
Faulkner, Eric; Novartis Gene Therapies, Inc, Bannockburn, Illinois, USA ; Institute for Precision and Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA ; Genomics, Biotech and Emerging Medical Technology Institute, National Association of Managed Care Physicians, Richmond, Virginia, USA
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK
This analysis was funded by Novartis Gene Therapies, Inc. Medical writing and editorial support was provided by Wynne Dillon, MS, of Kay Square Scientific, Newtown Square, PA, USA, and David Wolff, MS, of Novartis, Cambridge, MA, USA. This support was funded by Novartis Gene Therapies, Inc. Nicole Gusset of SMA Schweiz, Heimberg, Switzerland, and SMA Europe, Frieberg, Germany, was a member of the RESTORE steering committee and was part of the discussions that contributed to this analysis. The authors wish to thank the RESTORE investigators and site coordinators and, most importantly, all the patients, families, and caregivers for their willingness to participate in this registry, which is sponsored by Novartis Gene Therapies, Inc.This analysis was funded by Novartis Gene Therapies, Inc. Medical writing and editorial support was provided by Wynne Dillon, MS, of Kay Square Scientific, Newtown Square, PA, USA, and David Wolff, MS, of Novartis, Cambridge, MA, USA. This support was funded by Novartis Gene Therapies, Inc. Nicole Gusset of SMA Schweiz, Heimberg, Switzerland, and SMA Europe, Frieberg, Germany, was a member of the RESTORE steering committee and was part of the discussions that contributed to this analysis. The authors wish to thank the RESTORE investigators and site coordinators and, most importantly, all the patients, families, and caregivers for their willingness to participate in this registry, which is sponsored by Novartis Gene Therapies, Inc.
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