Key result
Utility scores estimated by clinical experts for SMA Type I ranged from -0.33 to 0.71, and for Type II ranged from -0.13 to 0.72, highlighting the substantial burden of the disease.
Why the study?
Data on the health-related quality of life burden of spinal muscular atrophy suitable for use in cost-effectiveness analysis are very limited.
This study provides utility scores for SMA Types I and II, highlighting the substantial HRQoL burden and providing data for cost-effectiveness analyses.
This is the authors' abstract. We don't add key points for this paper.
BACKGROUND: Spinal muscular atrophy (SMA) is a rare, genetic, progressive neuromuscular disorder characterized by severe muscle atrophy and weakness and is a leading genetic cause of death in infants and children. Nusinersen was the first treatment targeting the underlying cause of disease approved by the FDA, EMA and other countries for patients with SMA. There are currently very limited data available on the health-related quality of life (HRQoL) burden of SMA suitable for use in a cost-effectiveness analysis. OBJECTIVE: This study was designed to estimate quality of life weights or utilities for different SMA states. METHODS: SMA case studies were developed describing Type I (infantile onset) and Type II (later-onset) patients and different outcomes from treatment. These were developed so that quality of life weights or utilities (where the value of health ranges from 1 - full health to 0 - dead) could be estimated for cost-effectiveness analysis. Clinical experts (n=5) rated each of the case studies using standardized HRQoL instruments - the EQ-5D-Y and PedsQL-NMM (baseline states only). RESULTS: The SMA Type I utilities ranged from -0.33 (requires ventilation) to 0.71 (Type I patient reclassified as Type III following treatment), with quite substantial differences between some states. Most Type I states had a utility score below zero indicating the severity of the states. The SMA Type II utilities ranged from -0.13 (worsened) to 0.72 (stands/walks unaided). In general, the results showed HRQoL improved in line with better health states. CONCLUSION: The utility scores obtained in this study highlight the very substantial burden experienced by SMA patients. Despite the limitations in the methods used, this study produced data with face validity and is a useful starting point for understanding the burden of SMA Types I and II in cost-effectiveness analysis.
Expert-derived SMA utilities address a data gap for cost-effectiveness models; leaves open prospective validation with patient-reported outcomes.
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Lloyd et al. (2019) studied Spinal muscular atrophy (n=5). Spinal muscular atrophy health states was evaluated on Quality of life weights or utilities. Utility scores estimated by clinical experts for SMA Type I ranged from -0.33 to 0.71, and for Type II ranged from -0.13 to 0.72, highlighting the substantial burden of the disease.
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