Nusinersen for adults with spinal muscular atrophy

Area of Science:

• Neurology
• Rare Diseases
• Clinical Trials

Background:

• Nusinersen has demonstrated efficacy in infantile and childhood-onset spinal muscular atrophy (SMA).
• Real-world data on nusinersen's value in adult SMA patients is increasingly important.
• This study presents clinical experience with nusinersen in adult SMA patients.

Purpose of the Study:

• To evaluate the clinical experience and treatment outcomes of adult SMA patients receiving nusinersen.
• To assess the effectiveness of nusinersen in improving motor function in adult SMA patients.
• To identify potential predictors of treatment response and alternative monitoring tools.

Main Methods:

• A cohort of 32 adult SMA patients treated with nusinersen was retrospectively analyzed.
• Patients received nusinersen according to the CHERISH study protocol.
• Motor function was assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE) and the 6-minute walk test (6MWT).

Main Results:

• Median age at treatment initiation was 33.5 years; 81.2% had SMA type 3.
• Twenty-three patients (72%) showed at least a 3-point improvement in HFMSE after loading doses.
• SMA type 3 patients demonstrated significant HFMSE increases, while type 2 patients showed initial benefit followed by stabilization.
• Motor improvement correlated with baseline HFMSE scores (≤47) and ALSFRS-R changes.
• Ambulatory patients not showing HFMSE improvement walked at least 30m further on the 6MWT.

Conclusions:

• 78% of adult SMA patients responded to nusinersen based on HFMSE or 6MWT criteria.
• The Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) and 6MWT may serve as alternative tools for monitoring nusinersen's effects.
• Nusinersen demonstrates real-world effectiveness in improving motor function in adult SMA patients.