Nusinersen may contribute to improvements in patients with spinal muscular atrophy (SMA), regardless of their symptom severity, according to a study recently published in the World Journal of Pediatrics.

“Therefore, therapeutic agents, such as nusinersen, should be considered in all patients with SMA,” the authors wrote.

This retrospective study included 30 patients previously diagnosed with SMA who were at least 3 years of age. Patients were not on permanent ventilation and received nusinersen as part of their treatment scheme from 1 center in South Korea. Almost all participants (90%) had type 2 SMA, while the remaining 10% had type 3. The majority (87%) received this drug through intrathecal injection guided by computed tomography, while the others underwent direct intrathecal injection.

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The Hammersmith Functional Motor Scale-Expanded tool assessed clinical improvement, with mean increases of 2.10, 2.88, 4.21, and 5.29 points at the 6, 14, 22, and 16-month checkups, respectively. The researchers observed favorable effects in 72%, 71%, 88%, and 86% of patients at each follow-up visit, respectively. 

Up to 97% of the participants had scoliosis, and 73% had undergone scoliosis surgery. Regarding the respiratory system, 60% required mechanical ventilation, 57% needed noninvasive ventilation, and 3% warranted invasive ventilation via tracheostomy. Multivariable analysis demonstrated the worst outcomes for patients that required noninvasive ventilation assistance.

Even with such debilitating comorbidities, benefits after treatment with nusinersen still occurred. Similarly, although older participants showcased slight treatment outcomes, progress in motor capacity was significant. 

Notably, the higher number of patients exhibiting clinical improvement with longer treatment schemes suggests that the initiation of nusinersen should be considered in any patient with SMA upon initial evaluation, Shin and colleagues explained. 

“In conclusion, nusinersen could be effective and safe in a broad spectrum of patients with SMA type II or III, including both children and adults, regardless of severe scoliosis or respiratory support via mechanical ventilation,” the authors noted.


Shin H, Na J, Lee H, Lee Y. Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea. World J Pediatr. Published online November 28, 2022. doi:10.1007/s12519-022-00638-x