OBJECTIVES: This study aimed to review use of patient engagement and the use of clinical outcome assessment (COA) in health technology appraisals (HTA) when submitting internationally in a rare-disease indication.

METHODS: Reviews were conducted in June 2023; four reviewers independently screened HTAs. The following HTA bodies were included in this search: National Institute for Health and Care Excellence (NICE) and The Institute for Clinical and Economic Review (ICER); and Canadian Agency for Drugs and Technologies in Health (CADTH). Appraisals were included if they were: conducted in the last 5 years (June 2018-June 2023), were complete and were within a rare-disease indication as defined as a life threatening or serious condition affecting ≤ 1 in 50,000 people in the country which the HTA body represents (the very rare disease criteria set by NICE).

RESULTS: A total of 27 HTAs, specifically those reviewed under the highly specialized technology assessment, met the criteria. Of the 27 reviewed, 19 considered generic COAs as a key driver in their assessments, while 10 HTAs included disease-specific COAs. All HTAs utilized health utility methods, typically with the EQ-5D or using vignette studies. All HTAs also included patient insight or patient engagement research as part of the review. Only 2 HTAs included patient preference research (e.g., discrete choice experiments, conjoint analysis). Caregiver burden was considered in some of the NICE HTAs.

CONCLUSIONS: Several recent HTAs in rare diseases have used COAs and patient engagement research as key drivers for cost-effectiveness models (CEMs) and to document disease burden. Caregiver burden is also of increasing interest and has been utilized in rare disease HTAs more often over the past 5 years. While generic COAs are used most frequently, disease-specific COAs should be considered in order to ensure relevant concepts are reported by patients and utilized appropriately for CEMs.