OBJECTIVES: This study aimed to map the access landscape for rare disease (RD) medicines in Brazil from a multi-stakeholder perspective, to identify obstacles and opportunities in the healthcare system and propose actionable solutions.

METHODS: Three cross-sectional structured online surveys were conducted with participation from 30 RD healthcare professionals, 30 patients/patient advocacy organization (PAO) leaders, 3 policymakers, 17 regulators, and 18 payers. Descriptive analyses were performed on aggregated data.

RESULTS: Findings revealed substantial delays to diagnosis, with many patients waiting over a decade . All groups concurred that medicines access was suboptimal, negatively impacting the quality of life and overall health of patients and their families. Delays were also reported in treatment initiation due to bureaucratic processes, medicine availability, and lack of affordability. The extensive use of legal recourse for accessing medicines was also reported. Over 50% of patients reported treatment interruptions, primarily due to procurement issues that impact medicine availability. Differences in perception of the patient journey between patients and physicians were found, with patients reporting more significant challenges. Additionally, findings showed that costs and evidence requirements not tailored to RDs added to the bureaucratic hurdles for successfully incorporating medicines into the public healthcare system.

CONCLUSIONS: While Brazil has advanced its RD policy and regulatory frameworks compared to other Latin American countries, with positive indications of progress, obstacles to RD medicine access remain. This research underscores the need for further policy reform and enhanced healthcare infrastructure to address the critical challenges. Greater diversification of therapeutic options is suggested to provide more patient choice, mitigate treatment interruptions, and ensure continuation of supply: all crucial to ensuring optimal therapeutic efficacy. The pivotal role of PAOs is emphasized from the findings. Innovative funding mechanisms and adapted evaluation processes are recommended to enhance treatment access, patient choice and sustainability.