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

Authors

Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Natan Monsores de Sá, Domingos Alves, Têmis Maria Félix

Published in

Journal of medical systems. Volume 50. Issue 1. Jul 20, 2026. Epub Jul 20, 2026.

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 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.

PMID:
42474564
Bibliographic data and abstract were imported from PubMed on 20 Jul 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.