Abstract
OBJECTIVES: Spinal muscular atrophy (SMA) is a rare monogenic neuromuscular disorder caused by loss of function mutations. Measuring health-related quality of life to support economic evaluations in this population is encouraged. However, empirical evidence on the performance of preference-based measures (PBMs) in individuals with SMA is limited. This study aimed to assess the psychometric properties of the EQ-5D-5L and the Patient-Reported Outcomes Measure Information System Preference measure (PROPr) in individuals with SMA. METHODS: The data used in this study were obtained via a web-based, cross-sectional survey. All participants completed the self-reporting EQ-5D-5L and PROMIS-29 questionnaires. Information about their socioeconomic and health status was also obtained. Ceiling and floor effects, convergent and divergent validity, known-group validity, and the agreement between the two measures were assessed. RESULTS: Strong ceiling and floor effects were observed for four dimensions of the EQ-5D-5L and three subscales, including pain intensity, pain interference, and physical function, of the PROMIS-29. All hypothesized associations between EQ-5D-5L/PROMIS-29 and other neuromuscular questions were confirmed, supporting good convergent validity. Moreover, both EQ-5D-5L and PROPr scores differentiated between impaired functional groups, demonstrating good discriminative ability. Poor agreement between the EQ-5D-5L and PROPr utility scores was observed. CONCLUSIONS: The EQ-5D-5L and PROPr both appear to be valid PBMs for individuals with SMA. However, PROPr yielded considerably lower utility scores than EQ-5D-5L and their agreement was poor. Therefore, these two PBMs may not be used interchangeably in economic evaluations of SMA-related interventions.