Results from the Brazilian Rare Diseases Network (RARAS) were recently published in the Orphanet Journal of Rare Diseases. These findings represent what is currently the most comprehensive set of epidemiological data on rare diseases (RD) in Brazil, providing insight into the current unmet needs of the country’s RD community as well as potential avenues to improve understanding, management, and resource allocation.
The Brazilian Policy for Comprehensive Care for People with Rare Diseases was introduced in 2014. However, despite advances at the policy level, national-level epidemiological data on RD has remained scarce. For this reason, RARAS was established in 2020 by a consortium of reference centres for neonatal screening and for rare diseases, as well as hospitals. In 2018 and 2019, the study collected data from 12,530 patients receiving care in facilities associated with RARAS in order to characterise the epidemiological status of RD in Brazil.
RARAS collected data on the type and modality of diagnoses, along with individual therapeutic and demographic characteristics. Nearly two-thirds of participants had a confirmed diagnosis, with the most common pathologies being phenylketonuria, cystic fibrosis, and acromegaly. Common types of treatment employed were drug therapy and rehabilitation, with Brazil’s public health system funding the vast majority of diagnoses and treatments.
Notably, this study also found that the average diagnostic odyssey for people living with a RD in Brazil was 5.4 years. This is significantly longer than the European average of 4.7 years, as reported by EURORDIS in survey findings from earlier this year.
Overall, these findings the first national-level attempt to characterise the epidemiology of RD in Brazil. Moving forward, they can be used to drive evidence-based policy making and public health interventions to ensure that the RD community is being supported, and that their needs are being addressed appropriately.
