[en] Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I-III patients with a median age of 11.2 (0.39-57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e., those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients' caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients' and patients' caregivers' experience of the effect of nusinersen treatment in SMA.
Disciplines :
Pediatrics
Author, co-author :
Lilien, Charlotte ; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK
Vrscaj, Eva ; Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, 4000 Liege, Belgium ; Department for Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1525 Ljubljana, Slovenia
Thapaliya, Gita; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK
Deconinck, Nicolas; NMRC UZ Gent, Ghent University Hospital, 9000 Ghent, Belgium ; Neuromuscular Reference Center and Department of Paediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, HUB, Université Libre de Bruxelles, 1020 Brussels, Belgium
De Waele, Liesbeth; Department of Paediatrics, University Hospitals Leuven, 3000 Leuven, Belgium ; Department of Development and Regeneration, KU Leuven, 3000 Leuven, Belgium
Duong, Tina; John W. Day Lab, Department of Neurology and Neurological Sciences, University of Stanford, Stanford, CA 94305, USA
Haberlová, Jana; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, 150 06 Praha, Czech Republic
Kumhera, Markéta ; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, 150 06 Praha, Czech Republic
Peirens, Geertrui; Department of Paediatrics, University Hospitals Leuven, 3000 Leuven, Belgium
Szabo, Lena; Paediatric Center, Semmelweis University, 1083 Budapest, Hungary
Tahon, Valentine; NMRC UZ Gent, Ghent University Hospital, 9000 Ghent, Belgium
Tang, Whitney J; John W. Day Lab, Department of Neurology and Neurological Sciences, University of Stanford, Stanford, CA 94305, USA
BENMHAMMED, Noor ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK
The authors would like to thank patients for their participation in this study as well as Fardowsi Kazi for the grammatical and spelling review. L.D.W. and J.H. are members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD). E.V. was partly funded by the European Union\u2019s Horizon 2020 research and innovation program under the EJP RD COFUND-EJP N\u00B0 825575.
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