The research, led by Filipe Andrade Bernardi of the University of Porto and the University of São Paulo together with colleagues affiliated with the Brazilian Rare Diseases Network (RARAS), combined a structured literature search reported according to PRISMA-S guidelines with documentary analysis of public policies, health information systems, legislative texts, registry portals, and institutional reports. Searches spanned PubMed, SciELO, LILACS, and the Biblioteca Virtual em Saúde, together with extensive grey literature from Brazilian government bodies, patient organisations, and professional societies, covering material published between January 2000 and June 2026. From 561 identified records and source bundles, the team included 28 auditable extraction units supporting the full inventory of registry entities.

Rare diseases are defined in Brazil by the National Policy for Comprehensive Care for People with Rare Diseases, established in 2014, as conditions affecting up to 65 individuals per 100,000 inhabitants. Between 6,000 and 8,000 such conditions are known worldwide, roughly 80 percent of them genetic in origin, and collectively they affect about 6 percent of any population. Their clinical diversity and low individual prevalence create a well-documented “diagnostic odyssey,” and robust registries are considered essential for estimating prevalence, planning services, allocating resources, and accelerating research.

Of the 28 initiatives identified, 24 are already implemented, three exist only as legislative proposals, and one is under development. Among the implemented initiatives, 16 are national or multicentre efforts based in Brazil, three operate at state level, four are regional or local, and one is a transnational registry with documented participation of a Brazilian cohort. The temporal analysis revealed a clear inflection point: registry creation and related activity accelerated after 2018, with particularly intense growth between 2020 and 2026, a pattern the authors attribute to institutional maturation and rising prioritisation of rare diseases on the public agenda following the 2014 national policy.

At the national level, several flagship initiatives stand out. The RARAS Network, established in 2020, links 40 institutions across all five Brazilian regions and has produced the country’s most detailed epidemiological portrait of rare diseases to date. In a survey of 12,530 patients, it reported a median age of 15 years, a predominance of phenylketonuria, cystic fibrosis, and acromegaly, and a mean diagnostic odyssey of 5.4 years, somewhat shorter than the 6-to-8-year delays frequently reported in high-income countries, although the authors caution that methodological differences make direct comparisons difficult. The platform now records 62 participating researchers, nearly 19,500 registry records, and 2,391 distinct rare diseases. In 2023, the National Institute for Rare Diseases (InRaras) was created as a National Institute of Science and Technology, headquartered with RARAS at the Hospital de Clínicas de Porto Alegre, adding a genomic and biochemical investigation infrastructure that could later be integrated with registry data.

In August 2024, the Raras Brasil Project launched the first self-administered national registry of people living with rare diseases, a collaboration between the University of Brasília, the Ministry of Human Rights and Citizenship, and the Ministry of Health, collecting biopsychosocial information through an Observatory of Rare Diseases. Brazil also possesses population-based systems that function de facto as vast registries: the Live Birth Information System (SINASC) has recorded congenital anomalies since 2010, capturing nearly 3 million births per year with coverage approaching 98 percent, making it one of the largest congenital anomaly surveillance systems in the world. The National Neonatal Screening Programme, the “heel prick test” established in 2001, now screens for phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency and other conditions, covering 80 to 95 percent of live births. The Genomas Brasil Programme, launched in 2020 with a planned investment of approximately 600 million reais, aims to sequence 100,000 genomes and build a national genetic data repository linked to clinical phenotypes.

Beneath these national efforts lies a dense layer of condition-specific and specialty-led registries coordinated by professional societies and patient organisations. These include the National Spinal Muscular Atrophy Registry, the rare kidney disease registries of the Brazilian Society of Nephrology covering Fabry disease, atypical haemolytic uraemic syndrome, and cystinosis, the Brazilian Sjögren’s Syndrome Registry, the BiobadaBrasil registry monitoring biologic therapies in rheumatic diseases, a national prospective Hodgkin lymphoma registry, the National Amyotrophic Lateral Sclerosis Registry developed with the Ministry of Health, the Brazilian Academy of Neurology’s REDONE.br platform, the Brazilian Database on Orofacial Clefts maintained since 2003, and the National Epidermolysis Bullosa Registry coordinated by DEBRA Brasil, which has collected data on more than 900 individuals since 2014. Brazilian patients also participate internationally, contributing more than 2,000 participants to the Latin American Society for Immunodeficiencies registry, one of its largest national cohorts.

At the subnational level, the state of Paraná offers the only fully implemented state registry system. Its web-based notification platform, SIDORA, implemented in 2020, requires compulsory notification of rare diseases under state law and issues patients a personalised identification card with a QR code that can be presented at any point of care. Records must be validated by the State Health Department within ten working days. Other states have adopted partial instruments: São Paulo created an identification card in 2023, Minas Gerais formally recognised an identification lanyard in 2025, and Rio de Janeiro enacted a State Statute of the Person with a Rare Disease in 2024. In the Federal District, an experimental platform called TAMIS-IA applies machine learning algorithms, including Random Forest, XGBoost, and support vector machines, to primary care and hospital electronic health record data to flag patients with a high probability of selected rare conditions, potentially serving as a feeder mechanism for future registry structures.

The legislative landscape is moving rapidly. Three federal bills currently before the Chamber of Deputies propose national systems: Bill 109/2025 and Bill 4197/2025 would establish a National System for Monitoring Rare Diseases, while Bill 3373/2025 would create a National Registry of Rare Diseases with a statutory timeframe for defining the term “rare disease.” Despite differing terminology, the bills converge on three pillars: standardised compulsory notification of cases, conditional access to benefits such as high-cost medicines tied to registry enrolment, and explicit data-protection safeguards aligned with Brazil’s General Data Protection Law, the LGPD, which is broadly comparable to the European Union’s GDPR. A broader Statute of the Person with a Rare Disease, approved in committee in December 2023, would additionally create a National Registry of People with Rare Diseases intended to document socioeconomic profiles and barriers to the exercise of patients’ rights.

Drawing on international experience, the authors argue that Brazil can learn from mature models abroad. France’s National Rare Disease Database collects roughly 50 standardised data elements per patient from all reference centres nationwide under the oversight of the French data protection authority. Italy’s national registry, established in 2001, achieved full coverage by 2011 and can be linked to hospital discharge data. Spain’s network combined patient outcome registries with population-based registries covering over 80 percent of the population, identifying more than 800,000 cases. Canada mapped 148 heterogeneous registries in 2024 before launching harmonisation efforts, and Australia’s 2023 audit similarly found that even high-income countries need strong central coordination for isolated registries to reach their potential.

The study’s technical recommendations rest on four standardisation pillars: the International Classification of Diseases, 11th Revision, for morbidity coding; ORPHAcodes, the Orphanet terminology designed specifically for rare diseases, to address their chronic under-representation in general clinical coding; the 16 Common Data Elements defined by the European Platform on Rare Disease Registration; and Health Level Seven Fast Healthcare Interoperability Resources, or FHIR, profiles at version R5 or later, to enable exchange with electronic health records, laboratories, and administrative systems such as the SUS hospital information system. On governance, the authors recommend that record-level rare disease data, which are notoriously difficult to anonymise fully because of granular phenotypes, genetic variants, and geographic identifiers, be treated as sensitive personal data and processed under pseudonymisation, role-based access control, encryption, and audit trails, with patients and patient organisations represented in governance boards and data-access committees.

The proposed architecture would integrate epidemiological data from the RARAS Network and Raras Brasil, state notification systems such as SIDORA, hospital and specialised service records, congenital anomaly data from SINASC, and technology appraisal information from CONITEC, the national committee that appraised 164 medicines for rare diseases between 2012 and 2023. The authors conclude that Brazil’s principal deficits are not data but coordination: what the country lacks is political alignment, technical standardisation, and integration among systems that already exist. Implemented gradually, with robust legal safeguards and social participation, a unified national registry could position Brazil as a reference point for rare disease information governance across Latin America.