Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients has been collected in recent years. However, given that it is a relatively new treatment option, there is little known about how patients and their loved ones feel about the treatment and how they go about deciding whether to pursue the treatment when it is deemed clinically appropriate.

To help researchers and clinicians gain a better understanding of the patient perspective on nusinersen, a new study, published in the Journal of Neuromuscular Diseases, aimed to identify the reasons for which adults with SMA and the parents of children with SMA may be skeptical about undertaking nusinersen treatment.2  The researchers interviewed a total of 13 people: 10 of whom were adults with SMA, and 3 of whom were parents of children with SMA. The adults with SMA were between 27 and 48 years old, and 9 out of the 10 had SMA type 2. The parents had children with SMA type 1, SMA type 2, and SMA type 3. 

A major finding of the study was that patients with the less severe forms of SMA and their parents may approach the potential use of nusinersen differently from those dealing with SMA type 1. Quality of life and prognosis appeared to be the focus for most people engaging in decision making regarding nusinersen. This finding was consistent with previously collected data that suggest that overall views of the condition and perspectives about SMA screening depend on the patient’s type and severity of SMA.3–6 


Confusion about nusinersen represented one deterrent from pursuing the treatment. According to the researchers, it may be the case that the speedy approval of nusinersen could have contributed to this challenge. However, even those who were educated on nusinersen cited the lack of trial data on adult patients with SMA type 2, SMA type 3, and SMA type 4, as well as the lack of understanding of the long-term effects of nusinersen as reasons not to use the drug.

While several participants reported finding helpful information on Facebook, the researchers discovered that social media also provides inaccurate information about the drug. Those interviewed did say that they would like more reliable and easily accessible sources of information on nusinersen, such as on the drug maker’s website. Such an outlet could pose an opportunity to help educate patients on nusinersen and relevant developments.


Interestingly, though there has been much controversy about the cost of nusinersen since its approval,7–9 cost did not appear to be a major factor in decision making among SMA patients and parents, though it was a consideration. Patients and parents reported cost as an issue in the context of insurance coverage and the broader context of the impact of treatment on quality of life. 

Quality of life

The impact of nusinersen on quality of life was a significant consideration for SMA patients and their parents, who expressed concerns about both the potential long-term effects on functioning as well as short-term challenges related to things like cost and convenience. Some study participants worried that the requirements for nusinersen treatment may in fact reduce quality of life because of added burdens like regular trips to the hospital and interference with other valued activities.

As more patients undergo nusinersen treatment, it will be important to collect not only clinical data on the impact of the drug but also information on how patients, their loved ones, and their caregivers perceive the success of the treatment and what pros and cons they associate with it. Work that focuses on those who do undergo nusinersen treatment will also complement this initial work and help to elucidate the details of what motivates patients and parents to pursue this option. Armed with an improved understanding of this decision making process, clinicians will be better able support their patients through this process. 


1. Shorrock HK, Gillingwater TH, Groen EJN. Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. Drugs. 2018;78(3):293-305. doi:10.1007/s40265-018-0868-8

2. Pacione M, Siskind CE, Day JW, Tabor HK. Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy. J Neuromuscul Dis. December 2018. doi:10.3233/JND-180330

3. Boardman FK, Young PJ, Griffiths FE. Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy. J Genet Couns. 2018;27(1):69-84. doi:10.1007/s10897-017-0122-7

4. Boardman FK, Young PJ, Griffiths FE. Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families. Am J Med Genet A. 2017;173(2):421-434. doi:10.1002/ajmg.a.38031

5. Jeppesen J, Madsen A, Marquardt J, Rahbek J. Living and ageing with spinal muscular atrophy type 2: observations among an unexplored patient population. Dev Neurorehabil. 2010;13(1):10-18. doi:10.3109/17518420903154093

6. Kruitwagen-Van Reenen ET, Wadman RI, Visser-Meily JM, van den Berg LH, Schroder C, van der Pol WL. Correlates of health related quality of life in adult patients with spinal muscular atrophy. Muscle Nerve. 2016;54(5):850-855. doi:10.1002/mus.25148

7. Burgart AM, Magnus D, Tabor HK, et al. Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy. JAMA Pediatr. 2018;172(2):188-192. doi:10.1001/jamapediatrics.2017.4409

8. Appleby J. Drug Puts a $750,000 “Price Tag on Life.” NPR. Published 2017. Accessed January 21, 2019.

9. Thomas K. Insurers Battle Families Over Costly Drug for Fatal Disease. The New York Times. June 22, 2017.