Use of Clinical Outcome Assessments in Health Technology Appraisals for Rare Disease Indications: A Review of UK, US, and Canadian Submissions


Jones E1, Hyman J2, Weijers L3, Johnson N4
1Lumanity, Sheffield, UK, 2Lumanity, Boston, MA, USA, 3Lumanity, Utrecht, Netherlands, 4Lumanity, Long Beach, CA, USA

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.

Conference/Value in Health Info

2023-11, ISPOR Europe 2023, Copenhagen, Denmark

Value in Health, Volume 26, Issue 11, S2 (December 2023)




Clinical Outcomes, Health Technology Assessment, Patient-Centered Research

Topic Subcategory

Clinical Outcomes Assessment, Decision & Deliberative Processes, Health State Utilities, Patient-reported Outcomes & Quality of Life Outcomes


Rare & Orphan Diseases

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