Real-world data revealed promising long-term results regarding the efficacy and optimal safety profile of nusinersen for treating spinal muscular atrophy (SMA), according to a study recently published in the Orphanet Journal of Rare Diseases.

“In our study, nusinersen led to continuous functional improvement over 30-month follow-up and was well tolerated by adults and older children with a wide spectrum of SMA severity,” the authors wrote.

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The study group included 130 patients in Poland who were at least 5 years of age. The patients received treatment between March 2019 and January 2022. The study’s framework involved a national reimbursement program and was carried out at 2 medical centers specializing in treating SMA.

The study’s results indicated significant improvement in mean scores of functional tests over time. Clinically meaningful improvements were observed, such as a change in score of 3 points or more for HFMSE, 4 points or more for CHOP-INTEND, and 2 points or more for RULM. This suggests that nusinersen treatment halted disease progression and led to actual functional gains for many patients.

The study demonstrated that these improvements were sustained over the long term, with benefits continuing even beyond the first 18 months of treatment. The research dispels previous limitations in understanding nusinersen’s efficacy in adults and children with SMA1c, a milder phenotype that has been less studied, the authors noted.

Furthermore, the safety profile was overall favorable. Adverse events were generally mild and manageable, supporting the medication’s suitability for long-term administration.

“In conclusion, our data provide real-world evidence for continuous effectiveness and safety of long-term nusinersen treatment in adults and older children regardless of the type and severity of SMA, including adult patients with SMA1c,” the authors highlighted.


Łusakowska A, Wójcik A, Frączek A, et al. Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience. Orphanet J Rare Dis. Published online August 4, 2023. doi:10.1186/s13023-023-02769-4