The Utility of Different Approachs to Developing Health Utilities Data in Childhood Rare Diseases – A Case Study in Spinal Muscular Atrophy (SMA)

Abstract

A725anxiety/depression). Univariate regression analysis was used to determine whether covariates should be included in the multivariate model using an a priori specified criterion (p≤ 0.2). Correlation coefficients were estimated to detect the presence of significant correlations between these covariates. Multivariate linear regression models were estimated using robust (Huber-White) standard errors. Results: A total of 595 people completed the survey in full and of these 541 completed the detailed EQ-5D-5L questionnaire. The mean age of the sample was 47.0 (SD: 12.0) years and 71% were female. The median duration of disease was 6 (IQR: 4-8) years. Of the sample, 57.7%, 35.5%, and 6.8% reported being in a 'mild', 'moderate', and 'severe' disease state, respectively. The mean EQ-5D-5L score among the sample was 0.69 (SD: 0.24). In the multivariate regression analysis, increasing disease severity, being unemployed, being male, and older age were all statistically significantly associated with a reduction in quality of life (all p< 0.05). ConClusions: Multiple Sclerosis is associated with a significant decrease in HRQoL. In particular, employment status and disease severity were statistically significantly associated with EQ-5D scores, which may provide for useful information for clinicians and/ or policy-makers.

Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients

“…With the development of diseasemodifying therapies, children with SMA now have the potential to attain motor milestones, such as sitting or walking, which correlate with improved functionality and survival. These milestones have also been observed to correlate with substantial improvements in quality of life [20,21]. The structure of the cost-effectiveness model is based on a set of trajectories between 5 functional health states and death ( Figure 1).…”

“…Utility values used in the model were based on the CHERISH clinical trial of nusinersen in later-onset SMA (NCT02292537) mapped to the EQ-5D youth version using a published algorithm [21]. While this population is not identical, scores from clinical trials collected directly from patients or caregivers are generally preferred as the base case for analyses.…”

“…While this population is not identical, scores from clinical trials collected directly from patients or caregivers are generally preferred as the base case for analyses. Two other studies were identified by Thompson et al [21]. that have utility values for children with SMA: a European cross-sectional study [21] and a case vignette study assessing physician-rated quality of life (QoL) [20].…”

“…Two other studies were identified by Thompson et al [21]. that have utility values for children with SMA: a European cross-sectional study [21] and a case vignette study assessing physician-rated quality of life (QoL) [20]. Across the three studies, utility weights varied considerably, and no study appeared to capture the burden of illness across all of the health states of interest.…”

“…Across the three studies, utility weights varied considerably, and no study appeared to capture the burden of illness across all of the health states of interest. Utility scores from the CHERISH trial showed little differentiation between lower and higher motor function health states, while physicians in the case vignette study seemed to greatly devalue time spent in the lower health states, with negative values ('life worse than death') for health states consistent with SMA1 and 2 [21] ( Table 5). In consideration of these sources, we have used CHERISH utilities for the base case values and used the other sources in a scenario analysis.…”