06/08/2026 | Michael Esquer and Vitória Nascimento | Valor Econômico/p/Abrafarma

https://www.abrafarma.com.br/noticias/farmaceuticas-globais-ampliam-investimento-em-pesquisas-de-doencas-raras-no-brasil 

The role of the SUS (Brazilian Public Health System), new legislation, and genetic diversity have attracted the interest of multinational companies.

Influenced by recent regulatory advances, the country's genetic diversity, and the potential role of the Unified Health System (SUS) as a source of data and a future buyer of medicines, large global pharmaceutical groups have prioritized Brazil as a market for clinical research in rare diseases. This segment, also called "high-cost," involves treatments that approach millions of dollars in some cases, and even exceed that in others.

According to a survey by Interfarma, which brings together multinational companies in the sector present in the country, along with IQVIA, Brazil ranks 20th globally in clinical studies, but could reach 10th place. Although there is no segmented data for rare diseases, companies affirm that the country, where these types of diseases affect approximately 13 million people, has been a priority market for such investments, a trend that is expected to grow with the Clinical Research Law, regulated in 2025.

“The regulatory framework is improving and encouraging international companies to use the country as a platform for product development and clinical research,” said Nelson Mussolini, president of Sindusfarma, the pharmaceutical industry union.

The country attracts attention due to the size of its population and the quality of data from the SUS (Brazilian public health system), which facilitates the tracking of patients with rare diseases, said Rubens Granja, partner at the law firm Lefosse, a specialist in the health sector. The expectation of government purchases of future innovations also sparks interest. “The government is an excellent client and buyer, and companies operating in this segment at some point develop strategies for incorporating these products into the SUS (Brazilian Public Health System), which involves conducting economic studies to show that this is advantageous.”

“National companies cannot make this investment due to a lack of technology.” — Nelson Mussolini

Mussolini, from Sindusfarma, explains that multinational companies are the ones that invest the most in the segment, since national companies focus on biosimilars and synthetics. “National companies cannot make this investment, due to a lack of technology and because they don't have the working capital to invest R$ 3 billion in products that may turn out not to have the expected effect.”

The profile of pharmaceutical companies participating in this movement ranges from those that have been operating in the field since their founding to those that have undergone acquisition processes or portfolio segmentation to focus on more complex areas, such as rare diseases. “There’s a question of global positioning for these companies as innovation pharmacies,” said Granja, from Lefosse.

The Anglo-Swedish company AstraZeneca acquired the American company Alexion during the pandemic, which became its rare diseases division. In Brazil, the unit accounts for approximately 17% of the company's revenue, a level similar to the global average. Considering AstraZeneca's Brazilian revenue, around US$1.4 billion, the division's revenue would be approximately US$224 million.

“Brazil is a unique country in terms of population diversity. “With a [research] center in the country, there is already a considerable diversity of population,” said Marc Dunoyer, global president of Alexion and former CFO of AstraZeneca, to Valor. The pharmaceutical company invested R$ 10 million in clinical research on rare diseases in Brazil in 2025 and expects to reach R$ 12 million this year. Considering other areas, the total investment was R$ 315 million.

The American company Biogen has about 60% of its revenue in the country anchored in rare diseases and plans to invest R$ 165 million in clinical research in Brazil this year, a considerable portion for this segment. “In this market, we have less than 20% of therapies discovered.” "In other words, there are still 80% of diseases without innovation," stated General Manager Rogério Frabetti. He said the field is investment-intensive, but tends to have higher margins due to "good discoveries."

The Swiss company Roche integrates this field within divisions such as neurology, hematology, and immunology, and in Brazil, invests approximately 20% of its total investment in clinical research for rare diseases, which would correspond to about R$ 118 million considering the R$ 590 million investment planned for 2025. "Brazil is considered one of the priority countries, even due to its strategic relevance. And we are committed to maintaining and increasing [investment in clinical research]," said Michele França, the company's medical director.

Another Swiss company investing in rare diseases, Novartis integrates the field into its neurology, renal, and hematology divisions. In 2025, it invested R$ 145 million in clinical research in the country. It also did not specify how much was allocated to rare diseases, but reported that 18 of the 107 ongoing studies in the country are related to this segment. "The country plays a relevant role in the global innovation strategy, with the infrastructure to host studies," said Sylvester Feddes, president of the laboratory in Brazil.

"There's a question of global positioning as innovative pharmaceutical companies" — Rubens Granja

One of the pioneers, the French company Sanofi, invested R$ 153 million in clinical research in the country in 2025. It also doesn't disclose how much was for rare diseases, but said that 11 of the approximately 50 studies underway in the country are in this field. "It's one of the priority areas, with a significant presence both in the global pipeline and in studies conducted locally," said Ana Resque, the company's medical director in the country.

The Japanese company Takeda, with more than 60% of its global portfolio focused on rare diseases, has defined Brazil as a priority country for research and development in 2025, and has already invested approximately US$ 250 million in a partnership with the state-owned Hemobrás for the production and transfer of technology for the treatment of hemophilia, a type of genetic disease that affects blood clotting. "It is estimated that it takes about ten years from initial research to the availability of a new drug," said the executive director in Brazil, Vivian Kiran Lee stated that the field demands resilience.

However, access to treatments like those offered by these laboratories remains a challenge in the country, despite their interest in expanding it. Today, incorporation into the SUS (Brazilian Public Health System) does not necessarily mean availability to the patient. A survey by the Moka panel, shared by Interfarma with Valor, shows that only 41% of the 232 technologies for rare diseases submitted for incorporation into the SUS since 2012 have been incorporated, and of those, only 51, or about 54% of the total, have actually been made available.

Among the companies mentioned, medications such as eculizumab (AstraZeneca), for rare blood diseases; nusinersen (Biogen) and risdiplam (Roche), for spinal muscular atrophy; emicizumab (Roche), for hemophilia; and imiglucerase and alpha-alglucosidase (Sanofi), for Gaucher and Pompe diseases, are already available in the SUS. Novartis also has the first gene therapy for spinal muscular atrophy in the public healthcare system, "Zolgensma," which costs an average of R$7 million and has been provided to children since 2025 under a risk-sharing agreement.

"The main challenge still lies in the stage of incorporation into the healthcare system and effective access." In other words, more innovation is arriving, but the bottleneck remains transforming this progress into real and equitable access,” said Antoine Daher, president of the Brazilian Federation of Associations for Rare Diseases (Febraras).

The Ministry of Health said it has expanded the availability of treatments for rare diseases and that the country now has 50 specialized services in operation. According to the ministry, this number is more than double that of 2022. “Around 20 new technologies were incorporated during this period,” it stated in a note, citing Novartis' gene therapy.

“We also invested more than R$ 1 billion in offering a new treatment for cystic fibrosis, Trikafta,” it added. “And we started offering complete exome sequencing, a high-precision test that identifies rare genetic alterations more quickly and safely,” it concluded.