Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification

Rare disease registries in Brazil remain fragmented across federal, state, and local initiatives, limiting the availability of reliable epidemiological information to support diagnosis, care planning, research, and public policy. This study aimed to map existing rare disease registries and registry-like information systems in Brazil and to propose practical guidelines for their unification into an integrated national registry. We conducted a descriptive, exploratory mapping study combining a literature review with documentary analysis of public policies, health information systems, and registry initiatives. Sources included peer-reviewed databases and official documents to identify initiatives implemented or proposed between 2000 and 2025. We identified a rapidly evolving legislative landscape, including federal bills proposing a national monitoring system or registry and recent state-level statutes related to identification and observatories. We mapped 20 registry entities, of which 16 are implemented (nine national, three state-level, and four regional/local) and four correspond to proposals or projects under development. Registry creation accelerated after 2018, particularly between 2020 and 2025. We conclude that Brazil exhibits substantial data fragmentation across uncoordinated systems. A unified approach should integrate epidemiological data from existing networks, state notification systems, specialized hospital registries, and technology-appraisal information under coordinated governance, while embedding privacy-by-design and information-security safeguards.