Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary disease that significantly impacts motor control, coordination, and stiffness, particularly in the legs. This condition, which first appears in children from two to five years old and progresses slowly, was initially identified in the Charlevoix-Saguenay region of Quebec in 2000. Though rare, affecting only one in 1,500 people in the region and with roughly 320 cases in Quebec, ARSACS is increasingly recognized globally as the second most common form of Ataxia.
The limited number of people affected by ARSACS makes generating interest from pharmaceutical companies and increasing access to medication a significant challenge. However, recent policy changes in Quebec and Canada have prioritized research for rare diseases, including ARSACS. These changes align with the ongoing efforts of researchers such as Benoit Gentil, an Associate Professor in the Department of Kinesiology and Physical Education at 平特五不中.
Research efforts and innovative solutions in gene therapy
Interested in diseases affecting nerves and mobility, Gentil and his research group aim to better understand ARSACS, driven by its impact on the Quebec community. Their research has been and has led to promising developments in gene therapy. "ARSACS is caused by a single gene called SACS,鈥� says Gentil. 鈥淲e鈥檝e developed a gene therapy that targets the root cause of the disease and aims to restore the affected gene鈥檚 function.鈥�
In gene therapy, the goal is to treat or prevent diseases by introducing new or modified genes into a patient鈥檚 cells, which are delivered through modified viruses, called 鈥渧ectors.鈥� The use of vectors ensures that the genetic instructions reach the target cells safely, efficiently and in a controlled way to minimize side effects.
鈥淭he challenge with ARSACS is that the affected gene is too large to fit into the vector we use,鈥� explains Gentil. 鈥淭o solve this, we created a 鈥榤ini gene鈥� (which we call 鈥榤ini-SACS鈥�) by finding and using only the essential parts of the gene needed to fight the disease.鈥� This method is similar to the ones used for other genetic disorders, like Duchenne muscular dystrophy. 鈥淓arly studies have shown that we can delay the onset of several symptoms of ARSACS animal models鈥� says Gentil. 鈥淭hese results encourage us to continue testing to see how effective the therapy can be.鈥�
Support and commercialization
Gentil aims to mature and bring this technology to market to make treatment for ARSACS more accessible. To do this, he found the support of NeuroSphere, the 平特五不中 platform dedicated to innovation and partnership in neuroscience and neuroinformatics research.
In addition to receiving one of NeuroSphere鈥檚 Ignite Grants, Gentil and his team received guidance from NeuroSphere in designing experiments that meet U.S. Food and Drug Administration (FDA) requirements to ensure that the team had the necessary data for regulatory approval and to speed up the regulatory approval process. 鈥淭he strategic guidance offered by NeuroSphere has been invaluable in transitioning our research from the lab to clinical applications,鈥� says Gentil. 鈥淭hey helped us navigate aspects of intellectual property, explore partnerships with pharmaceutical companies and even potentially start a company.鈥�
NeuroSphere recently announced a strategic partnership with the Ataxia Charlevoix-Saguenay Foundation, with both groups committing $200,000 each to support Gentil's research. Adrienne Crampton, Associate Director of Business Development at NeuroSphere, says that Gentil鈥檚 project stands out for its potential to make a strong impact in its field. 鈥淲hile working with Gentil鈥檚 team in the earlier stages of their research, we were impressed with their dedication and meticulous approach to research. Their work not only pushes the boundaries of what is possible in gene therapy for ARSACS, but also exemplifies the core mission of NeuroSphere鈥攖o drive forward transformative medical breakthroughs,鈥� says Crampton. 鈥淏y supporting projects like this, we鈥檙e investing in a future where innovative research translates into real-world clinical applications, offering hope and improved outcomes for patients.鈥�
