Rare diseases, trends and challenges for scientific advances: a snapshot of a decade of research in Brazil

Brazil is home to around 13 million rare disease patients, which represents a significant challenge for biomedical research and public health. This descriptive and exploratory study analyzed research protocols on rare diseases submitted to Plataforma Brasil between 2013 and 2023, with the aim of identifying trends, challenges and opportunities for scientific progress in this area. The research evaluated variables such as the number of studies submitted and approved, sample characteristics, type of study, experimental design, research phase, participation in international networks, and epidemiological data (ICD). The results indicate a substantial increase in the number of protocols submitted over the period analyzed, with an average approval rate of 87.26%. Most of the studies were conducted in public institutions, highlighting the fundamental role of the public sector in rare disease research in Brazil. These findings suggest a growing investment and interest in research in this area, which could boost the development of new therapies and interventions, as well as supporting the formulation of more effective public policies to meet the needs of patients with rare diseases.