Nusinersen for adults with spinal muscular atrophy.

Abstract

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.

• Authors: Doruk Arslan, Berin Inan, Muhammed Kilinc, Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Ersin Tan
• Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 44 Issue 7 Pg. 2393-2400 (Jul 2023) ISSN: 1590-3478 [Electronic] Italy
• PMID: 36854931 (Publication Type: Journal Article)
• Copyright: © 2023. Fondazione Società Italiana di Neurologia.

Chemical References

• nusinersen
• Oligonucleotides

Topics

• Humans
• Male
• Adult
• Child
• Female
• Muscular Atrophy, Spinal (drug therapy)
• Oligonucleotides (therapeutic use)
• Spinal Muscular Atrophies of Childhood (drug therapy)
• Amyotrophic Lateral Sclerosis (drug therapy)