Nusinersen treatment stabilizes the progression of spinal muscular atrophy (SMA) in ambulant patients, according to results from the SMArtCARE Registry Study published in the Journal of Neuromuscular Diseases. It also leads to clinically meaningful improvements in walking distance in some patients.

“Our data demonstrate a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients,” the authors wrote. 

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The data available about the long-term effect of nusinersen treatment in patients with SMA who are able to walk is limited. 

In the present study, researchers from the SMArtCARE study group reported data from the registry about 231 patients with ambulant SMA with a follow-up of up to 38 months (more than 3 years). 

The researchers found that during the observation period, 27.2% of children and 26.5% of adults with the disease who could walk had a clinically meaningful improvement in the 6-minute walk test. 

On the contrary only 7.7% of adult patients who could walk showed a reduction in the distance they could walk. Only 2 children with the disease lost the ability to walk unaided while being treated with nusinersen. 

The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores improved in children and stayed the same in adults during the observation period. 

“In conclusion, our data demonstrate a positive effect of nusinersen treatment on motor function in ambulant pediatric and adult SMA patients,” the researchers wrote. 

SMArtCARE is a disease-specific registry, the aim of which is to collect real-world data about patients with SMA in Germany, Austria, and Switzerland independently of their treatment regime.

Nusinersen was the first disease-modifying treatment that was approved for the treatment of SMA. It is an antisense oligonucleotide that is designed to induce the production of fully functional SMN protein from the SMN2 gene.

Reference

Pechmann A, Behrens M, Dörnbrack K, et al. Improvements in walking distance during nusinersen treatment: a prospective 3-year SMArtCARE registry study. J Neuromuscul Dis. Published online January 3, 2023. doi:10.3233/JND-221600