How Patient Stories Fuel Ataxia Research 

September 24, 2025

On International Ataxia Awareness Day (25 September), the spotlight turns to the progress being made to treat rare neurological conditions. For Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), where treatment options remain limited, progress depends on close collaboration between scientists and the patient community.  

Professor Esther Becker, a neuroscientist at the Nuffield Department of Clinical Neurosciences, University of Oxford, and member of the Oxford FA Alliance, is leading a project that uses cerebellar organoids, three-dimensional, miniature models of a crucial brain structure affected by ARSACS, to better understand the disease. 

“Cerebellar organoids provide a powerful way to study how the brain develops, how diseases affect it, and how potential treatments might work,” explains Professor Becker. Unlike other models, organoids are grown from patient-derived cells called induced pluripotent stem cells (iPSCs). These cells are created from skin samples and then “reprogrammed” to become nerve cells and cerebellum-like tissue. 

For ARSACS, this means that for the first time, researchers can recreate how the disease develops in living human brain cells in the lab. Professor Becker’s team, including MSc student Valeria Zuluaga-Sanchez, is trying to address important questions, such as why Purkinje cells, neurons in the cerebellum that coordinate movement, are particularly vulnerable in ARSACS. 

“Developing cerebellar organoid models has the potential to benefit research into many forms of ataxias. These models can reveal the mechanisms that go awry in different ataxias and provide innovative tools to translate basic research into new therapies,” says Professor Becker. 

“In the long term, we hope that these cerebellar organoid models will deepen our understanding of ARSCAS and pave the way for more effective treatments for patients.” 

None of this would be possible without the Fondation de l’Ataxie Charlevoix-Saguenay, which has funded Professor Becker’s project and supported the establishment of the patient cell repository that makes this kind of research possible. 

For Sonia Gobeil, President of the ARSACS Foundation, the patient voice is just as important as the science. She recalls including families as panellists during the Foundation’s symposium in Montreal: 
“The feedback from the attendees was overwhelmingly positive. Academic students who attended the Symposium and actively work on scientific projects in labs commented that seeing and hearing from patients provided a better understanding of the condition and gave more meaning to their work.” 

This exchange of perspectives is not only inspiring but also drives tangible progress. Sonia first met Professor Becker in 2017 and immediately saw the potential of her stem cell expertise to open new avenues for discovery. Since then, the Foundation has worked to foster this collaboration, funding Professor Becker’s two-year project and integrating her work into the global ARSACS research community. 

While organoids represent an exciting new research tool, the ARSACS Foundation is also advancing clinical research. Sonia highlights several reasons for optimism: “We are currently drafting a protocol for a clinical trial, which gives us hope for the future. Additionally, we are awaiting results from the testing of Omaveloxone, a drug currently approved only for Friedreich ataxia, in ARSACS models, expected in Spring 2026. Our ARSACS gene therapy is progressing well, and we aim to move towards a clinical trial in the near future.” 

For Professor Becker, the most exciting part is seeing how discoveries in the lab can translate into real progress for patients: 
“The [ARSACS] Foundation creates opportunities for direct interaction between patients and researchers. These exchanges are deeply inspiring and remind us as researchers of the importance and real impact that our work can have." 

International Ataxia Awareness Day is a reminder that progress depends on more than science alone. It is the stories of families, the vision of patient organisations, and the dedication of researchers that together fuel discovery.