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This study aimed to map existing rare disease registry entities and registry-related initiatives in Brazil and to propose practical guidelines for their unification into an integrated national registry. We conducted a descriptive, exploratory mapping study combining a structured literature search with documentary analysis of public policies, health information systems, registry portals, institutional reports, and legislative documents related to rare diseases in Brazil. PRISMA-S was used to report the search component, and a PRISMA-style flow diagram documented source identification and selection. 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. Using an expanded, auditability-oriented inventory definition, we mapped 28 registry entities and registry-related initiatives. Of these, 24 are implemented, three are legislative proposals, and one is under development. Among the 24 implemented initiatives, 16 are national or multicentre, Brazil-based initiatives; three are state-level; four are regional\/local; and one is a transnational registry with documented participation of a Brazilian cohort. Registry creation and registry-related activity accelerated after 2018, particularly between 2020 and 2026. We conclude that Brazil exhibits substantial data fragmentation across uncoordinated systems. A unified approach should integrate epidemiological data from existing networks, state notification systems, specialised hospital registries, and technology appraisal information under coordinated governance, while embedding privacy-by-design and information security safeguards.<\/jats:p>","DOI":"10.1007\/s10916-026-02442-w","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T06:13:19Z","timestamp":1784527999000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification"],"prefix":"10.1007","volume":"50","author":[{"given":"Filipe Andrade","family":"Bernardi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bibiana Mello","family":"de Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natan","family":"Monsores de S\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domingos","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00eamis Maria","family":"F\u00e9lix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,20]]},"reference":[{"issue":"2","key":"2442_CR1","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","volume":"28","author":"S Nguengang Wakap","year":"2020","unstructured":"Nguengang Wakap, S., Lambert, D. 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F.A.B., B.M.O., D.A., and T.M.F. are affiliated with or have participated in activities of the Brazilian Rare Diseases Network (RARAS Network), which is one of the registry-related initiatives analysed in this study. T.M.F. coordinates the RARAS Network under grant 443030\/2019-7 from the Brazilian Ministry of Health. D.A. coordinates the CNPq-funded CPLP-Raras project that supported this work, under grant number 403244\/2024-2. N.M. is affiliated with the University of Bras\u00edlia, an institution associated with the Raras Brasil Project\/Observatory of Rare Diseases discussed in the manuscript, and serves as Coordinator-General for Rare Diseases at the Brazilian Ministry of Health. These roles are academic, public-interest, governmental, and\/or institutional in nature. The authors declare that these affiliations, roles, and funding relationships did not influence the eligibility criteria, data extraction, classification of registry entities, interpretation of findings, or conclusions. The authors report no commercial financial conflicts of interest related to this study.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable. This study analysed public-domain documents and publicly available sources.","order":3,"name":"Ethics","label":"Ethics approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":4,"name":"Ethics","label":"Consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":5,"name":"Ethics","label":"Clinical trial number","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors thank the Brazilian Rare Diseases Network (RARAS Network) for its support and collaboration. The authors used OpenAI ChatGPT and Grammarly for language refinement, editorial organisation, grammar and spelling review, and consistency checking during manuscript revision. No AI-assisted tool was used to generate original data, perform eligibility decisions, classify registry entities without author verification, validate references independently, or generate scientific conclusions. All scientific claims, extracted data, classifications, interpretations, citations, DOIs, URLs, and references were checked and approved by the authors. The authors take full responsibility for the content of the manuscript.","order":6,"name":"Ethics","label":"Acknowledgements \/ AI disclosure","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"115"}}