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A Real-World Study of Nusinersen Effects in Adults with Spinal Muscular Atrophy Type 2 and 3
Published online by Cambridge University Press: 27 March 2024
Abstract
Background:
Spinal muscular atrophy (SMA) is a progressive genetic disorder characterized by muscle weakness ultimately leading to pulmonary impairments that can be fatal. The recent approval of nusinersen, a disease-modifying therapy, substantially changed the prognosis for patients, particularly in children. However, real-world evidence about its long-term effectiveness in adults remains limited. This study aimed to document longitudinal data on motor function, pulmonary function and patient-reported outcome measures of Canadian adults with SMA type 2 and 3 treated with nusinersen.
Methods:
Outcomes from 17 patients were collected at the Institut de réadaptation en déficience physique de Québec during routine clinical visits over 36 months post nusinersen treatment, using the Hammersmith Functional Motor Scale Expanded for SMA (HFMSE), Revised Upper Limb Module (RULM), 6-Minute Walk Test (6MWT), Children’s Hospital of Philadelphia Adult Test of Neuromuscular Disorders (CHOP-ATEND), SMA functional rating scale (SMAFRS), pulmonary function testing and subjective changes reported by patients.
Results:
After 36 months, 9 patients showed motor function improvement. Changes beyond the minimal clinically important difference were seen for four patients on the HFMSE, four patients on the RULM and five patients on the 6MWT. Pulmonary function remained stable for most subjects. Subjective positive changes were reported in 88% of patients and five patients showed improvement in the SMAFRS.
Conclusion:
This real-world study demonstrates the positive effects of nusinersen in adults with SMA types 2 and 3. Although stabilizing the patient’s condition is considered therapeutic success, this study shows an improvement in motor function and subjective gains in several patients.
Résumé
Étude sur les effets du nusinersen chez des adultes atteints d’amyotrophie spinale de type 2 ou de type 3, dans le monde réel.
L’amyotrophie spinale (AS) est une maladie génétique évolutive, caractérisée par une faiblesse musculaire qui finit par entraîner des troubles pulmonaires susceptibles d’être mortels. L’approbation récente du nusinersen, médicament modificateur de la maladie, a eu pour effet d’améliorer considérablement le pronostic, tout particulièrement chez les enfants. Toutefois, il existe peu de données du monde réel sur l’efficacité à long terme du médicament chez les adultes. L’étude visait justement à recueillir des données longitudinales sur le fonctionnement moteur, le fonctionnement pulmonaire et les résultats déclarés par des adultes atteints d’AS de type 2 ou de type 3 et traités par le nusinersen, au Canada.
Des données sur les résultats ont été recueillies sur 17 patients, à l’Institut de réadaptation en déficience physique de Québec, au cours de consultations médicales courantes, sur une période de 36 mois, après le traitement par le nusinersen. Ont alors été utilisés différents instruments de mesure : l’échelle Hammersmith Functional Motor Scale Expanded pour l’AS (HFMSE), le module Revised Upper Limb Module (RULM), l’épreuve 6 Minute Walk Test (6MWT), l’échelle Children's Hospital of Philadelphia Adult Test of Neuromuscular Disorders (CHOP ATEND), l’échelle SMA functional rating scale (SMAFRS), auxquels s’ajoutent des explorations fonctionnelles respiratoires et des déclarations de changements subjectifs indiqués par les patients.
Au bout de 36 mois, une amélioration du fonctionnement moteur a été observée chez 9 patients. Par ailleurs, des changements plus importants que de simples différences sur le plan clinique ont été constatés chez 4 patients sur l’échelle HFMSE, chez 4 patients dans le module RULM ainsi que chez 5 patients à l’épreuve 6MWT. Quant au fonctionnement pulmonaire, il est resté stable chez la plupart des sujets. Des changements favorables subjectifs ont été signalés chez 88 % des patients, et une amélioration sur l’échelle SMAFRS a été observée chez 5 patients.
Les résultats de cette étude réalisée dans le monde réel ont démontré les effets favorables du nusinersen chez des adultes atteints d’AS de type 2 ou de type 3. Bien que la simple stabilisation de la maladie soit déjà considérée comme une réussite thérapeutique, l’étude confirme l’existence d’une amélioration du fonctionnement moteur et de changements favorables subjectifs chez plusieurs patients.
Keywords
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- © The Author(s), 2024. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation
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