OBJECTIVES: To review recommendations from rare disease literature related to health technology assessment (HTA) to inform the development of a patient-centered framework and checklist for patient engagement in rare disease HTA within the United States. There is a lack of consensus on approaches to conducting patient-centered HTA for rare diseases in the US. This project aims to develop a patient-centered framework and checklist for enhancing patient engagement in rare disease HTA, incorporating relevant recommendations from global literature.

METHODS: A PubMed search identified 279 articles on rare diseases and HTA. An additional seven relevant articles were included through a rolling review process. Among these, 67 articles focused on HTA tools and frameworks. After excluding articles that discussed different HTA agencies, comparisons between HTA agencies in different countries, cost-effectiveness analysis methods, and unrelated topics, 23 articles were reviewed. Common recommendations from these articles were summarized.

RESULTS: Several recommendations have been identified for improving HTA in rare diseases. 1) Leverage various data resources: Utilize qualitative data to identify patient-centered outcomes. 2) Intersect patient-centered and patient-reported outcomes: Finding the intersection of these outcomes is crucial for a comprehensive assessment. 3) Engage stakeholders: Involve different stakeholders from pre-clinical to post-launch comparative effectiveness stages. 4) Adopt a societal perspective: Use a societal perspective in assessments and appraisals. 5) Consider sustainability: Address sustainability in funding rare disease treatments. 6) Apply economic evaluation methods: Use methods such as Multi-Criteria Decision Analysis to assess multiple aspects of value. 7) Incorporate product value: Consider product value in pricing and reimbursement decisions.

CONCLUSIONS: The literature search highlights recommendations for addressing gaps and uncertainty in rare disease assessments. We plan to incorporate these insights into a patient-centered HTA framework and checklist to enhance patient engagement in the assessment process of rare diseases.