Quality of life data for individuals affected by Spinal Muscular Atrophy: A baseline dataset from the Cure SMA Community Update Survey

Abstract

<jats:title>Abstract</jats:title> <jats:p>BACKGROUND Individuals and/or caregivers of individuals affected by Spinal Muscular Atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and fatigue using the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Patient Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS Fatigue SF), respectively. The purpose was to collect baseline quality of life results among individuals affected by SMA using the above Patient Reported Outcome Measures (PROMs). RESULTS Of 666 surveys completed between March and May 2019, 478 were included in this analysis, accounting for duplicates, missing data, or deaths. The breakdown across SMA type I, II and III was 25%, 47% and 28%, respectively. Responses were characterized by current functional status/milestone, with subsets for “permanent ventilation,” “non-sitters,” “sitters,” “walk with support,” and “walk alone.” WPAI and HUI respondents included affected adults and caregivers. The PROMIS Fatigue SF was completed by the primary caregiver of affected children. Overall, those affected by a less severe form of SMA and with a higher functional status reported higher HRQoL and lower work productivity and activity impairment. All affected individuals reported higher fatigue levels than the general population. CONCLUSIONS This study offers useful insights into the burden of SMA among affected individuals and their caregivers. The results provide a baseline picture of the patient and caregiver experience with SMA in a post-treatment era from which to measure year-over-year changes in quality of life scores from new therapies and improved care. The WPAI demonstrates the significant impact of work productivity among SMA populations. Aspects of the HUI seem more appropriate to certain SMA sub-populations than others. Measures from the PROMIS Fatigue SF appear to under-represent the burden of fatigue often reported by SMA individuals and caregivers; this may, perhaps be due to a lack of sensitivity in the questions associated with fatigue in the SMA affected population, when compared with other studies on this topic. Overall, these results suggest the need for SMA-specific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.</jats:p>

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)

“…The SMN2 copy number is inversely correlated with the severity of SMA [6,7]; however, this correlation is not absolute due to additional genetic and epigenetic disease modifiers [8]. SMA, although a disease continuum, is classified into five types (0-4; most to least severe) [9][10][11][12] and SMA types differ with respect to survival and overall quality of life [13][14][15][16]. Type 0 SMA results in intrauterine or early neonatal death [9], whereas onset of Type 4 SMA occurs during adulthood and represents the least severe SMA type with the lowest incidence [17].…”

Approved gene therapies in Australia: coming to a store near you

“…Nevertheless, it is clear that improvement in functional status after treatment with Zolgensma is associated with marked improvement in QOL. 11 In the case of Luxturna, patient or parent-reported questionnaires demonstrated significant improvement in activities of daily living compared with baseline and control groups after 1 year. 12 This, in addition to the modest adverse effects, suggests a highly favourable patient experience for both therapies.…”

“…Moreover, obtaining accurate measurements of quality of life (QOL) data for SMA patients is complicated by the incapacitating nature of these diseases. Nevertheless, it is clear that improvement in functional status after treatment with Zolgensma is associated with marked improvement in QOL 11 . In the case of Luxturna, patient or parent‐reported questionnaires demonstrated significant improvement in activities of daily living compared with baseline and control groups after 1 year 12 .…”

Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

“…9,10 With 15 diseasespecific domains, the SMA-HI is capable of identifying clinically meaningful information that may not be adequately captured using common generic PROMs, such as the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Pediatric Quality of Life Inventory (PedsQL). [3][4][5][6][7] Qualitative reports suggest that even a seemingly minor improvement in just one domain of functioning can have potentially life-altering effects on a person's quality of life and indicate that it may be valuable to examine SMA-HI results for each subdomain in specific populations. 7,8 Here, we report results from a population of adolescents and young adults with SMA.…”

“…[3][4][5][6][7] Qualitative reports suggest that even a seemingly minor improvement in just one domain of functioning can have potentially life-altering effects on a person's quality of life and indicate that it may be valuable to examine SMA-HI results for each subdomain in specific populations. 7,8 Here, we report results from a population of adolescents and young adults with SMA. We used the SMA-HI to quantify individuals' perception of their disease burden across a range of symptoms.…”