Nusinersen Likely to Improve QOL for Patients With SMA

Across most questionnaire domains, patients reported improvements to their quality of life (QOL) while receiving treatment for spinal muscular atrophy (SMA) with nusinersen.

Adding to data on the efficacy of nusinersen as a treatment for spinal muscular atrophy (SMA), results from a new study show that nusinersen yielded improvements to the physical and psychosocial well-being of patients with the disease.

The researchers of the study, recently published in Journal of Neurology, analyzed data from 78 patients with a mean (SD) age of 39.4 (14.2) treated with nusinersen (7 with SMA2; 69, SMA3; 2, SMA4) over a 14-month period and who completed 189 Individualized Neuromuscular Quality of Life (INQoL) questionnaires that inquired about weakness, fatigue, activities, independence, social relationships, emotions, and body images. All of these patients received care for their disease between 2018 and 2020 at 7 secondary or tertiary neuromuscular referral centers in Italy.

“Even though different scales for the measurement of independence, disease burden, self-rated improvement, and worsening during therapy are emerging for the evaluation of SMA patients, the INQoL remains today the best-known and most used quality-of-life scale specifically validated for adults affected by neuromuscular disorders,” highlighted the researchers. “The results obtained by the use of the INQoL scale, administered over 14 months of evaluation during nusinersen treatment, further support the therapy efficacy in adult 5q-SMA patients, as already shown through objective motor outcome measure.”

Across all questionnaire domains, with the exception of 2, patients reported improvements that translated into improved QOL scores while under treatment with nusinersen. The study researchers note that the 2 domains that did not improve with treatment—muscle locking and pain—are not known to be relevant issues for patients with SMA.

Although the rest of the domains significantly improved throughout treatment, the course of improvement varied, as seen by the following:

  • Progressive improvements were seen throughout treatment for activities and QOL total score
  • Significant improvements were seen in the first 6 months before a stabilization and another peak of improvement after 1 year for weakness, independence, and emotions
  • Fatigue and body images significantly improved in the first 6 and 10 months, respectively, before maintaining steady improvements throughout the rest of treatment

Taking a look at the impact of nusinersen based on the length of time patients have lived with SMA, the researchers found that having a longer disease duration significantly correlated with improvements in social relationships. Meanwhile, patients with a shorter disease duration showed better improvements in the perceived negative impact of emotions on QOL.

“A better trend, although not statistically significant, was detected in independence acquisition and QOL total score reported after nusinersen treatment by patients with a longer disease duration,” added the researchers. “However, no significant differences were detected in any of the subgroup analyses of the QOL total score. Interestingly, fatigue was not influenced by disease duration, as for body image.”

Notably, there was no correlation between Hammersmith Functional Motor Scale Expanded or Revised Upper Limb Module scores—these 2 scales were used to evaluate concurrent motor function—and QOL score at baseline or at 10 months despite overall improvements in motor function outcome measures throughout nusinersen treatment.

“In our cohort, adult SMA patients showed a global improvement at the INQoL assessment over 14 months of nusinersen treatment,” the authors concluded. “QOL assessment is relevant to SMA multidisciplinary evaluation.”


Bonanno S, Zanin R, Bello L, et al. Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen. J Neurol. Published online January 3, 2022. doi: 10.1007/s00415-021-10954-3