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

Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Natan Monsores, and 2 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-8758831/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 8 You are reading this latest preprint version Abstract 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. Rare Diseases Health Information Systems Public Health Policy Health Registry Unified Health System Epidemiology Full Text Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Reviewers agreed at journal 16 Apr, 2026 Reviewers agreed at journal 11 Feb, 2026 Reviews received at journal 05 Feb, 2026 Reviewers agreed at journal 05 Feb, 2026 Reviewers invited by journal 05 Feb, 2026 Editor assigned by journal 05 Feb, 2026 Submission checks completed at journal 04 Feb, 2026 First submitted to journal 01 Feb, 2026 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-8758831","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":588225361,"identity":"fc0f6b04-4474-40c2-9e7e-a42ecc537d6f","order_by":0,"name":"Filipe Andrade Bernardi","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA2ElEQVRIiWNgGAWjYBAC9hkQmrGNvYGBgYcYLTw3YFp4DsC0MBOppUEigVgt0s3HPhfU3JPtk3yd+OANw+E8Bun+A/i1yBxLnj3jWLFxm3TuZsM5DIeLGWQO47fFXiLHmJmHLSERqGWbNA/D4cQGiWQCDpPI/8zM8w+oRfLs9t9EaslhZuZtA2qR4N3GTJwWmWPGzLx9CcZtPLmbJecYpBezyRw2wK9FuvkxM8+3BNn57Wc3fnhTYZ3HL934AL81qMCAIYFNghQNIJDAQLKWUTAKRsEoGO4AAKzdP0jLvhTVAAAAAElFTkSuQmCC","orcid":"","institution":"University of Porto","correspondingAuthor":true,"prefix":"","firstName":"Filipe","middleName":"Andrade","lastName":"Bernardi","suffix":""},{"id":588225362,"identity":"30c6ec00-feca-4e76-b20e-a72d2d49bb86","order_by":1,"name":"Bibiana Mello de Oliveira","email":"","orcid":"","institution":"Universidade Federal de Ciências da Saúde de Porto Alegre","correspondingAuthor":false,"prefix":"","firstName":"Bibiana","middleName":"Mello","lastName":"de Oliveira","suffix":""},{"id":588225363,"identity":"7c189dc5-2f3d-41f1-891c-3b1fd5105bb9","order_by":2,"name":"Natan Monsores","email":"","orcid":"","institution":"University of Brasília","correspondingAuthor":false,"prefix":"","firstName":"Natan","middleName":"","lastName":"Monsores","suffix":""},{"id":588225364,"identity":"db6aa70b-a72c-42ef-a698-3ace22dc8cc2","order_by":3,"name":"Domingos Alves","email":"","orcid":"","institution":"Universidade de São Paulo","correspondingAuthor":false,"prefix":"","firstName":"Domingos","middleName":"","lastName":"Alves","suffix":""},{"id":588225365,"identity":"48c594c9-b0fe-4e32-a9cd-c6eb6b3733d8","order_by":4,"name":"Têmis Maria Félix","email":"","orcid":"","institution":"Hospital de Clínicas de Porto Alegre","correspondingAuthor":false,"prefix":"","firstName":"Têmis","middleName":"Maria","lastName":"Félix","suffix":""}],"badges":[],"createdAt":"2026-02-01 21:08:23","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-8758831/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-8758831/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":102398131,"identity":"0c320022-d14b-40e5-8a05-43e2047a3fc7","added_by":"auto","created_at":"2026-02-11 10:21:08","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":667965,"visible":true,"origin":"","legend":"","description":"","filename":"rareregistry.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8758831/v1_covered_6e559ff1-b2b9-43d2-a71f-b2572c77a2dd.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-medical-systems","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"","sideBox":"Learn more about [Journal of Medical Systems](https://www.springer.com/journal/10916)","snPcode":"10916","submissionUrl":"https://submission.nature.com/new-submission/10916/3","title":"Journal of Medical Systems","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Rare Diseases Health Information Systems Public Health Policy Health Registry Unified Health System Epidemiology","lastPublishedDoi":"10.21203/rs.3.rs-8758831/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8758831/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eRare 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. 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