OBJECTIVES: Access to drugs for rare diseases is challenging to healthcare systems, especially those with public funding as Brazil. Considering these challenges, it is essential to establish differentiated HTA criteria for rare diseases to guide both submission and evaluation. The aim of this study is to propose a differentiated framework for rare disease drugs HTA in Brazil.

METHODS: A comprehensive literature review was performed on PubMed, LILACS, Scopus, and Embase until March/2022. Publications addressing the criteria used by HTA agencies in countries with public healthcare systems when evaluating reimbursement recommendations for orphan drugs were included. Based on the findings, a differentiated criteria framework for rare disease HTA was proposed for Brazil. Content validity was performed in three rounds using a Delphi panel and Content Validity Ratio (CVR) methodology used to evaluate the experts rating.

RESULTS: 29 criteria to HTA of rare disease drugs were identified in the scope review and selected to compose the criteria matrix proposed for Brazil. The first version of the matrix was divided into 6 domains: health problem and current use of the technology, description and technical characteristics of the technology, efficacy and safety, social and ethical aspects, legal and organizational aspects, and costs/economic evaluation. After 3 rounds of validation, the matrix now comprises 17 criteria divided into the following 4 domains: disease-related factors, treatment-related factors, social and political factors, and economic factors. Among the most well-rated criteria considering the relevance attribute are: definition of relevant outcomes, impact on quality of life, participation of patients and disease specialists in the process, social aspects for patients/caregivers, and possibility of price reduction.

CONCLUSIONS: A validated matrix of differentiated criteria for evaluating orphan drugs may contribute for a better healthcare system efficiency in Brazil and inspire the development of a local guidance for rare-disease drugs HTA submission/evaluation.