02/26/2026 | Fiocruz

https://agencia.fiocruz.br/fiocruz-inicia-estudos-clinicos-com-terapia-genica-inovadora-para-atrofia-muscular-espinhal 

In partnership with the Ministry of Health (MS), Fiocruz has begun the first human clinical study of GB221, a gene therapy product that integrates the new generation of this class of products, aimed at treating Spinal Muscular Atrophy (SMA) Type 1 (SMA1), the most severe form of the disease. The clinical research represents an advance in the development of gene therapies, one of the most innovative frontiers of precision public health, focusing on the Unified Health System (SUS).

The project is being conducted by Fiocruz in partnership with Gemma Biotherapeutics, Inc. (GEMMABio), the technology holder and sponsor of the study within the scope of the National Health Surveillance Agency (Anvisa); Intrials Pesquisa Clínica Ltda; Casa dos Raros; and the Hospital de Clínicas de Porto Alegre (HCPA).

The announcement took place this Thursday (February 26th) in Brasília, during an event organized by the Ministry of Health commemorating World Rare Disease Day (February 28th). SMA is a rare disease that manifests in the first months of life and is caused by an alteration in the SMN1 gene, responsible for producing a protein essential for the functioning of neurons that control movement. The absence of this protein causes progressive loss of muscle strength and can compromise the survival of children in the first years of life.

New technological frontier in Brazil

The ongoing clinical study is part of the process of incorporating this technology within the context of the Fiocruz Strategy for Advanced Therapies. The goal is to provide the country with the scientific, technological, production, and healthcare infrastructure necessary to make advanced therapies available within the Brazilian Unified Health System (SUS).

The technology incorporation contract signed between the Institute of Technology in Immunobiologicals (Bio-Manguinhos/Fiocruz) and the American company GEMMABio stipulates that the costs in Brazil will be significantly lower than those currently charged in the United States for similar therapies.

"The ongoing clinical study opens a front of action that can transform the lives of families and children who deal with the disease daily," emphasizes the president of Fiocruz, Mario Moreira. "The technology incorporation agreement also guarantees the opening of pathways for access to an innovative gene therapy for the first time in the Unified Health System."

Since the nationalization of the Covid-19 vaccine, Fiocruz has mastered the viral vector technology, also used for the production of this gene therapy. The development of viral vectors under Good Manufacturing Practices (GMP) is a major technological bottleneck worldwide, and mastering this technique gives Brazil unprecedented potential for global leadership in this new technological frontier.

According to the director of Bio-Manguinhos/Fiocruz, Rosane Cuber, this agreement not only meets the demands of the Brazilian Unified Health System (SUS), but also strengthens the Health Economic-Industrial Complex (Ceis) by generating technological autonomy and economic benefits for the country. "The incorporation of this technology represents a disruptive leap for Brazilian science. Our commitment at Bio-Manguinhos is to convert cutting-edge innovation into real access with the safety and sustainability of national manufacturing," says Cuber.

The actions of the National Health Surveillance Agency (Anvisa) were decisive in ensuring that the study of a highly complex therapy was approved in a prioritized and agile manner, meeting safety criteria and reaffirming the Agency's commitment to the needs of the SUS.

“Our relationship with our Brazilian partners began several years ago when we discussed our shared interest in bringing transformative treatments to patients with rare diseases,” says GEMMABio CEO James M. Wilson, who is also a member of the International Advisory Board of Experts at Casa dos Raros. “We are very pleased to have reached this milestone together and are grateful to our dedicated partners at Fiocruz, Bio-Manguinhos, the Ministry of Health, Anvisa, Casa dos Raros, Intrials, and the medical team at Hospital de Clínicas de Porto Alegre, who worked with us to advance our shared mission. We anticipate expanding the clinical trial in Brazil and working together on future studies for other gene therapies for rare diseases.”

First phase of the clinical trial

Treatment with GB221 is a one-time application with the potential to benefit the patient for life. The impacts of the treatment are also short-term, allowing for an improvement in the patient's quality of life in a short period of time. The first patient is a baby diagnosed with SMA type 1, the most severe form of the genetic disease.

The procedure was performed in January at the Hospital de Clínicas de Porto Alegre (HCPA), a center authorized by the Ministry of Health for gene therapy treatment. For the clinical study, the therapy was administered via intracystinum magna (ICM), which delivers the medication directly to the central nervous system, allowing it to reach more regions of the brain and spinal cord, which may also reduce possible harmful effects on other organs.

“This route also allows the medication to be administered even to patients who have antibodies against the virus used in the therapy,” explains HCPA professor Jonas Saute. The entire procedure was monitored by magnetic resonance imaging and computed tomography scans.

In this first phase of the study, the objective is to evaluate the safety and tolerability of the product. The protocol foresees the gradual inclusion of patients in this phase, so that there is very careful monitoring and progress can be made with complete safety. “In the coming months we should include a second patient. This innovative study reflects the strategic role of public institutions in cutting-edge science in Brazil,” adds Jonas.

For Roberto Giugliani, Executive Director of Casa dos Raros and coordinator of the research, this partnership signals a promising path for the development of innovative treatments in shorter timeframes and at more accessible costs.