Nusinersen for adults with spinal muscular atrophy.

Autor: Arslan D; Department of Neurology, Hacettepe University, Ankara, Turkey., Inan B; Department of Neurology, Hacettepe University, Ankara, Turkey., Kilinc M; Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey., Bekircan-Kurt CE; Department of Neurology, Neuromuscular Diseases Research Laboratory, Hacettepe University, Sihhiye, 06100, Ankara, Turkey. canebru@yahoo.co.uk., Erdem-Ozdamar S; Department of Neurology, Neuromuscular Diseases Research Laboratory, Hacettepe University, Sihhiye, 06100, Ankara, Turkey., Tan E; Department of Neurology, Neuromuscular Diseases Research Laboratory, Hacettepe University, Sihhiye, 06100, Ankara, Turkey.
Jazyk: angličtina
Zdroj: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jul; Vol. 44 (7), pp. 2393-2400. Date of Electronic Publication: 2023 Mar 01.
DOI: 10.1007/s10072-023-06698-9
Abstrakt: Introduction: Nusinersen was effective in improving motor function and survival in infantile and childhood-onset spinal muscular atrophy (SMA), and the value of real-world experiences in adult SMA patients increase gradually. Here, we present our clinical experience in adult SMA patients treated with nusinersen according to CHERISH study.
Material and Methods: Thirty-two SMA patients treated with nusinersen were included in the study.
Results: Median age at nusinersen initiation was 33.5 (20.0-60.0) years and 23 of SMA patients were male. Six (18.8%) patients had SMA type 2, and 26 (81.2%) had SMA type 3. Median follow-up period of patients under nusinersen treatment was 17 months (9-21). Twenty-three patients improved by at least 3 Hammersmith Functional Motor Scale Expanded (HFMSE) points after loading doses. There was significant HFMSE score increase in type 3 patients at each time point, whereas type 2 patients seem to benefit from nusinersen loading doses, subsequently stayed stable. Motor improvement was positively correlated with baseline HFMSE scores in patients whose baseline HFMSE scores were ≤47. There was a correlation between the changes in Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R) score and HFMSE scores. Ambulatory patients who could not show clinically meaningful increase in HFMSE scores improved at least 30 m by 6-min walk test (6MWT).
Conclusion: Overall, 78% of patients have responded to treatment according to HFMSE or 6MWT. ALSFRS-R and 6MWT may be alternative tools to monitor nusinersen effect.
(© 2023. Fondazione Società Italiana di Neurologia.)
Databáze: MEDLINE
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