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July 22, 2026Journal of Medical SystemsOpen Access

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

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Authors

FBFilipe Andrade BernardiBOBibiana Mello de OliveiraNSNatan Monsores de Sá

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Overview

Descriptive mapping study identifies and proposes unification of rare disease registries in Brazil, highlighting data fragmentation.

Key Points

  • The aim is to map rare disease registries in Brazil and propose guidelines for their unification into a national registry.
  • Conducted a descriptive, exploratory mapping study combining literature search and documentary analysis.
  • Analyzed public policies, health information systems, registry portals, and legislative documents.
  • Used PRISMA-S for reporting and created a PRISMA-style flow diagram for source identification.
  • Identified 28 registry entities and initiatives, with 24 implemented, three legislative proposals, and one under development.
  • Noted accelerated registry creation and activity after 2018, particularly between 2020 and 2026.
  • Highlighted the need for a unified approach to integrate epidemiological data and enhance governance.

Cite This Study

Bernardi et al. (2026) studied this question.

synapsesocial.com/papers/6a605dfa4163e025518d7ea2https://doi.org/10.1007/s10916-026-02442-w
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