Presentation (CTI)

OBJECTIVES: To identify and characterize methodological adaptations used by HTA bodies globally for the assessment of rare diseases and orphan drugs, and to explore the extent to which these approaches could inform HTA practice in Latin American countries, where no differentiated methodology for this therapeutic area has been developed to date.
METHODS: A narrative review of published literature and gray literature was conducted. Internationally, frameworks analyzed include, among others, the NICE Highly Specialized Technologies process, the Scottish Medicines Consortium PACE mechanism, the German G-BA/AMNOG orphan drug pathway, ICER's criteria for ultra-rare diseases, and pan-European initiatives (IMPACT-HTA, EU-HTA). Canadian guidance documents (CADTH, PMPRB) were also reviewed. For the Latin American regional landscape, a broader search across countries in the region was performed; only three countries (Brazil/CONITEC, Colombia/IETS, Peru/IETSI) yielded relevant documentation on HTA practices applicable to rare diseases or orphan drugs.
RESULTS: Internationally, HTA bodies have progressively introduced adaptations to address the particular evidentiary challenges of rare diseases, including flexible cost-effectiveness thresholds, acceptance of real-world evidence and adaptive trial designs, structured patient and clinical expert input, and multi-criteria decision analysis. In Latin America, the regional search identified limited documented experience: only three countries had materials with any relevance to rare disease assessment, and in none of them were explicit methodological accommodations identified for small population sizes, limited comparators, or the specific burden associated with rare conditions.
CONCLUSIONS: Latin American HTA systems face a growing challenge in evaluating rare disease technologies within frameworks designed for more common conditions. International experience offers potentially transferable components — particularly regarding evidentiary flexibility, patient engagement, and MCDA tools — that could be adapted to regional institutional and resource contexts. Further research is needed to explore how these approaches could be operationalized in the region.