There were no significant differences in terms of quality of life and family impact during the transitional period of nusinersen (Spinraza®) use in patients with spinal muscular atrophy (SMA), according to a new study by US researchers. However, when a subset of the population was analyzed, it became apparent the therapy was associated with improved communication and emotional functioning.

The researchers also found several negative effects, however, including increases in the use of family resources and increases in worry.

Nusinersen was approved by the US Food and Drug Administration (FDA) in December 2016 to treat children with SMA, increasing their lifespan and potentially their quality of life.

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However, quality of life outcomes associated with nusinersen treatment have not been extensively studied. There is also little data available about how children with SMA define quality of life and how their caregivers perceive impacts on the patient and the family before, during, and after the introduction of nusinersen treatment.

The present study aimed to explore the early changes in patient and caregiver reports of quality of life and family impact during the transitional period of nusinersen treatment.

The team led by Matthew A. Halanski, MD, of the Children’s Hospital and Medical Center at Omaha in Nebraska, measured communication, family relationships, daily activities, and physical, emotional, social, and cognitive functioning using pediatric quality of life modules before and after treatment with nusinersen.

The researchers analyzed 35 patients with SMA. Of these patients, 15 had type 1 disease, 14 had type 2 disease, and 6 had type 3 disease. The researchers grouped them according to nusinersen exposure. 

Although there were no significant differences between the initial and final surveys for family impact, child self-report, and proxy family caregiver report, when the researchers analyzed the data by SMA type and nusinersen treatment status at the initial survey, they identified several significant differences and trends. 

For example, they found improvements in emotional functioning in children who progressed from no treatment to maintenance therapy with nusinersen. Children who were on maintenance therapy with nusinersen for longer also showed improvements in communication.

However, the researchers also found adverse effects. For example, the family resources domain was significantly higher at follow-up in patients with SMA type 1, as was the worry domain, especially for those on maintenance therapy for the entirety of this study. 

“The lived experience of children with SMA receiving nusinersen warrants attentiveness towards ways to continually improve their quality of life,” the researchers concluded. “Further research is warranted to explore the impact of novel pharmaceuticals on quality of life for children with SMA.”


Weaver MS, Yuroff A, Sund S, Hetzel S, Halanski MA. Quality of life outcomes according to differential nusinersen exposure in pediatric spinal muscular atrophy. Children (Basel). Published online July 17, 2021. doi:10.3390/children8070604