Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Authors: Félix Têmis Maria , de Oliveira Bibiana Mello , Artifon Milena , Carvalho Isabelle , Bernardi Filipe Andrade , Schwartz Ida V. D. , Saute Jonas A. , Ferraz Victor E. F. , Acosta Angelina X. , Sorte Ney Boa , Alves Domingos ,   RARAS Network group, Amorim Tatiana , Adjuto Gisele Maria Araujo Felix , Almeida Rosemarie Elizabeth Schimidt , Brandão Flávia Resedá , Bueno Larissa Souza Mario , de Andrade Maria Denise Fernandes Carvalho , Cagliari Cristina Iacovelo , Cardoso Maria Terezinha , Carvalho Ellaine Doris Fernandes , Costa Marcela Câmara Machado , El-Husny Antonette , Faccini Lavinia Schuler , Fock Rodrigo Ambrosio , Florêncio Rodrigo Neves , Galera Marcial Francis , Giugliani Roberto , de Rosso Giuliani Liane , Grumach Anette S. , Horovitz Dafne G. , Llerena-Junior Juan Clinton , Kim Chong A. E. , Maia Rayana Elias , Martins Ana Maria , de Medeiros Paula Frassinetti Vasconcelos , de Castro Musolino Nina Rosa , Nita Marcelo Eidi , da Silva Nunesmaia Henrique Gil , de Oliveira Jose Carlison Santos , Paiva Wagner José Martins , Pimentel Helena , de Camargo Pinto Louise Lapagesse , Prazeres Vânia Mesquita Gadelha , de Freitas Rodrigues Ribeiro Betânia , Ribeiro Erlane , Rodrigues Márcia Maria Jardim , Salles Maria José Sparça , Sanseverino Maria Teresa Vieira , dos Santos Eliane Pereira , Santos Mara Lucia Schmitz Ferreira , Sarti Flávia Mori , da Silva Luiz Carlos Santana , da Silva Raquel Tavares Boy , Steiner Carlos Eduardo , Tavares Ana Beatriz Winter , Teixeira Thais Bonfim , Vergara Alberto , Zen Paulo Ricardo Gazzola , Zuchetti Marcos Guimarães 
Published: February 2022

AbstractThe Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.