Global Drugmakers Expand Rare Disease Research Investment in Brazil Amid Persistent Funding Gaps
Global drugmakers are expanding rare disease research investment in Brazil, attracted by new regulations, genetic diversity, and the public healthcare system's data capabilities. Major companies including AstraZeneca, Biogen, and Roche have committed significant clinical research budgets to the country. Despite this progress, advocates warn that a significant global funding gap persists, with 95% of rare diseases still lacking an FDA-approved treatment.
Global pharmaceutical companies are increasingly prioritizing Brazil as a hub for clinical research into rare diseases, driven by recent regulatory advances, the country's genetic diversity, and the potential role of Brazil's public healthcare system as both a source of data and a future purchaser of medicines. The segment, often referred to as the "high-cost" treatment market, includes therapies that can cost several million dollars in some cases.
An estimated 13 million people in Brazil live with rare diseases, and according to a study by Interfarma in partnership with IQVIA, Brazil currently ranks 20th globally in clinical trials but has the potential to reach 10th place. The trend is expected to accelerate following the implementation of the Clinical Research Law, which was regulated in 2025.
"The regulatory framework is improving and encouraging international companies to use Brazil as a platform for product development and clinical research," said the president of Sindusfarma, Brazil's pharmaceutical industry association. The country attracts attention because of its large population and the quality of data generated by the public healthcare system, which facilitates the identification and tracking of patients with rare diseases. Expectations that the government may eventually purchase innovative therapies also fuel interest.
Several major pharmaceutical companies have committed significant resources to rare disease research in Brazil. Anglo-Swedish pharmaceutical company AstraZeneca acquired U.S.-based Alexion during the pandemic, turning it into its rare disease division. In Brazil, the unit accounts for nearly 17% of AstraZeneca's revenue, which totals about $1.4 billion, meaning the division generates roughly $224 million. The company invested R$10 million in rare disease clinical research in Brazil in 2025 and expects to increase that figure to R$12 million this year. Across all therapeutic areas, total investment reached R$315 million. "Brazil is a unique country in terms of population diversity. Establishing a research center in the country already provides access to considerable genetic diversity," said the global head of Alexion.
U.S.-based Biogen generates about 60% of its Brazilian revenue from the rare diseases segment and plans to invest R$165 million in clinical research in the country this year, with a significant share allocated to the area. "In this market, fewer than 20% of therapies have been discovered. In other words, 80% of diseases still lack innovative treatments," said the company's country manager.
Swiss pharmaceutical company Roche addresses rare diseases through divisions such as neurology, hematology, and immunology. In Brazil, approximately 20% of its clinical research budget is directed toward rare diseases, equivalent to around R$118 million based on its R$590 million investment in 2025. "Brazil is considered one of our priority countries, including for strategic reasons. We are committed to maintaining and increasing our clinical research investments," said the company's medical director in Brazil. Novartis also conducts rare disease research in Brazil through its neurology, renal, and hematology divisions.
Despite this growing investment, advocates stress that a significant funding gap persists worldwide. A 2020 JAMA study found the median cost of developing a new drug was $1.1 billion, with many rare disease programs exceeding that due to failures, regulatory hurdles, and long clinical timelines. Rare diseases affect 1 in 10 people, yet 95% still lack an FDA-approved treatment — a gap that is not due to a lack of science but to insufficient funding to back it.
The early-stage funding gap remains one of the biggest obstacles in advancing rare disease research. Many traditional venture capital firms wait until a program is far along and safer to invest in, pharmaceutical companies often prioritize diseases with larger patient populations, and government research grants do not cover the full cost of development. One venture philanthropy model has funded 19 research projects that advanced to clinical trials, with some now FDA-approved. Several research projects funded years ago are showing promising clinical results and are expected to be submitted for FDA approval in the coming year.
As the president of Sindusfarma noted, multinational companies account for most investments in the rare disease segment, while Brazilian drugmakers focus primarily on biosimilars and synthetic medicines. "Domestic companies cannot make these investments because they lack the technology and the financial capacity to commit R$3 billion to products that may ultimately fail to deliver the expected results," he said.