OBJECTIVES: Measuring health-related quality of life (HRQoL) in rare diseases is associated with various practical and ethical considerations. Further to previous research,^1,2 our aim was to systematically review published studies collecting utility data in rare diseases, and compare applied methods against available best practice guidance.³

METHODS: Rare disease utility studies published from database inception to March 2022 were systematically identified through MEDLINE and Embase via Ovid SP; no geographical or date limits were applied. Abstracts were screened by two independent reviewers and methodological details were extracted. Full-text screening, hand-searches and full extractions are on-going; final results, and their comparison against recent guidance on preferred HRQoL measurement methods, will be presented.

RESULTS: 448/1,426 articles were included at the abstract screening stage, including 310 primary research studies measuring HRQoL, and 138 systematic literature reviews or economic evaluations. Of the 310 primary research studies: 49.7% were published in or after 2020; 17.1% reported on interventional trials, 31.6% on observational studies and 7.7% included vignettes. Regarding HRQoL tools, 19.4% of included primary research studies directly obtained utility values using EQ-5D only; an additional 14.8% combined EQ-5D with other tools, such as SF-36. The SF-36 was the most commonly used non-preference based instrument, reported in 43.5% of primary research articles. Disease-specific tools were reported in 12.9% of studies. Direct preference elicitation methods, such as time trade-off, were reported by 12.3% of studies.

CONCLUSIONS: This research systematically explores the variety of methods and tools used to measure HRQoL in rare diseases. The large number of studies using tools other than EQ-5D demonstrate the value of published guidance where EQ-5D is unavailable or inappropriate. Further analysis will be conducted to examine how closely guidance has been followed in such cases.