https://orcid.org/0000-0002-0029-5924
Abstract
Background
The recent approval of innovative therapies for spinal muscular atrophy (SMA), such as nusinersen, has brought hope to patients and their families.
Objective
The aims of this study were to compare the characteristics and HRQoL of SMA patients treated with nusinersen and those treated with the standard of care.
Methods
This was a cross-sectional, interviewer-administered telephone questionnaire, which used a purposive sampling of SMA patients through a social support network. EuroQol five-dimensions-3-level (EQ-5D-3L) and the visual analog scale (VAS) have been used to assess the HRQoL. Different descriptive and inferential tests have been performed to compare the characteristics, EQ-5D responses, and mean scores of EQ-VAS between patients on nusinersen and the standard of care.
Results
Eleven out of 36 SMA patients (30.55%) have been treated with nusinersen. Patients with type I SMA represented 54% of those treated with nusinersen (P=0.012). Only 12.5% of SMA patients living in the Mecca region are treated with nusinersen in comparison to 50% of patients living in the Riyadh region (P=0.029). No difference was noticed in the proxy-responses for the five domains of the EQ-5D or the mean VAS scores for patients on nusinersen and the standard of care despite controlling for the SMA type and the ability to breathe independently (β= 1.39, 95% CI= – 5.15-7.93, P=0.667). However, the mean VAS score for patients who are unable to breathe independently was significantly lower than their counterparts who are able to breathe independently even after controlling for the SMA type and nusinersen treatment (β= –31.61, 95% CI= – 51.59 - –11.63, P=0.003).
Conclusion
The results of this study highlight the uncertainty about the impact of nusinersen on SMA patients’ HRQoL. Therefore, the impact of nusinersen on HRQoL should be examined using more robust study designs.
Abbreviations
SMA, spinal muscular atrophy; SMN, survival motor neuron; USFDA, United States Food and Drug Administration; HINE, Hammersmith Infant Neurological Examination; HFMSE, Hammersmith Functional Motor Scale Expanded; RULM, Revised Upper Limb Module; QALY, Quality Adjusted Life Year; SFDA, Saudi Food and Drug Authority; HRQoL, health-related quality of life; EQ-5D-3L, EuroQol five-dimensions-3-level; VAS, visual analog scale; MOH, Ministry of Health.
Data Sharing Statement
Study data are available from the authors upon request from the corresponding author (Yazed AlRuthia).
Acknowledgment
The authors acknowledge financial support from the Deanship of Scientific Research at King Saud University, research group number [RG-1441-366].
Disclosure
The authors report no conflicts of interest in this work.