Public Policies for Rare Diseases in Brazil: Regulatory Path, Challenges in Research and Access to Orphan Drugs

Abstract

Introduction: Rare diseases, which affect millions globally, are chronic and often genetic conditions, frequently manifesting in childhood. In Brazil, they are considered rare when they affect up to 65 in every 100,000 people. With around 7,000 types and impacting 5-6% of the world’s population, including 13 million Brazilians, they require multidisciplinary management. High morbidity and mortality rates and the lack of a cure mean that treatment focuses on improving quality of life. Objective: To describe the construction and implementation of official ethical and health regulations on rare and ultra-rare diseases, with the purpose of identifying barriers and challenges in research development and access to orphan drugs in the Brazilian context. Methods: An exploratory study that adopted a qualitative approach, focusing on documentary analysis and narrative review of the literature. Official websites were visited and literature was reviewed, using qualitative and quantitative approaches to evaluate the National Policy for Comprehensive Care for People with Rare Diseases (PNAIPDR), ethical and health regulations, and access routes to orphan drugs in Brazil. Results: The study reveals that the implementation of the PNAIPDR was hampered by a lack of professionals, reference centers, and financial incentives. Health regulations accelerated the processing of orphan drugs, which boosted the number of studies on rare diseases, which is still in its infancy in Brazil, reflecting on effective access and the incorporation of new technologies into the SUS. Research ethics showed a commitment to protecting participants through CNS regulations, which led to the approval of Law No. 14,874/2024 in August 2024. Conclusion: Brazil has made progress in regulation, but the effective implementation of policies faces structural and financial challenges. Strengthening research infrastructure, streamlining the incorporation of drugs into the SUS, and exploring alternative financing options are crucial to ensuring equitable access to treatments for rare and ultra-rare diseases.