Our Mission
The Ataxia Charlevoix-Saguenay Foundation’s mission is to discover and develop a treatment for the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Persons with ARSACS
You have been diagnosed with ARSACS, you are not alone. Individuals living with ARSACS are all around the world.
There is hope because Research that heals!
Researchers
Interested in doing ARSACS research ?
The Foundation supports ARSACS researchers by providing funding, research tools and supporting/ organizing conferences.
Furthermore, the Foundation is looking for partners to conduct preclinical and clinical trials.
Community
The Foundation is supported entirely by private donors and volunteers. We need your support to pursue the mission.
Different ways you can help. Get involved.
Researchers & Pharmaceuticals
Apply for a grant
The Foundation provides grants and opportunities to researchers.The research grant could be as high as $100,000 for a 12 month period and could be renewed for a second year.
Research tools available
- Sacs Knock Out mouse (#033221)
- Sacs Knock In mouse (#033385)
- iPS cells derived from samples taken from people diagnosed with ARSACS (homozygous c.8844delT).
Conferences
The Foundation organizes and supports conferences such as the International ARSACS Symposium.
Preclinical and clinical trials
The Foundation is looking for partners to conduct preclinical and clinical trials. It has the expertise and the tools available.
What can I do to help the ARSACS community and the ARSACS Foundation?
ARSACS is a rare disease. You can help by becoming an ARSACS advocate and creating awareness for the cause.
You can organize fundraising activities in your community to support research and clinical trials.
Another way to help …. Be the eyes on what is going on. You do not have to be a scientist to help advance science for ARSACS. We believe that research on other neurological diseases may help research on ARSACS and eventually lead to therapies. This is the reason why we asked you to be the eyes on what is going on for other types of ataxias and other neurological diseases. In other words, if you see or read scientific material that is worth sharing and validating (outbreaks, drugs, clinical trials, fundamental research developments), please do not hesitate to transmit this information to the ARSACS Foundation. The Foundation has dedicated volunteers and can seek professional advice to confirm or infirm the relevance of the information with respect to ARSACS.
The Ataxia Charlevoix-Saguenay Foundation’s mission is to discover and develop a treatment for the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
The Ataxia Charlevoix-Saguenay Foundation, founded in 2006, is a charitable organization federally registered with no employees and is supported entirely by private donations and volunteers
Research that heals so
There is HOPE
The Foundation’s mission is to discover and develop a treatment for the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Progress has been made over the years in identifying the source of the disorder. Your support is crucial to continue funding high potential projects as well as a clinical trial of a repurposed drug.
Latest News
Newsletter #5 – Autumn 2025 Edition
We are excited to share the latest updates from the Ataxia of Charlevoix-Saguenay Foundation. In this edition, you will find a newly published scientific article on ARSACS, details about the research projects funded by the Foundation for 2025–2026, and an invitation to participate in a Gene Therapy Survey for people with genetic ataxias. We also highlight upcoming webinars and conferences where youcan connect with experts and learn more about ongoing research and therapeutic developments.
Dr. Javier Santos’ Project Report
We are pleased to present Dr. Javier Santos’ research project report, entitled “Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS.” This project was funded by the Foundation for the 2024–2025 period.
International survey on gene therapy for genetic ataxias
People living with a ARSACS (or parent/guardian) are invited to take part in an online survey about gene therapy.
🔹 Purpose: to gather opinions that will help shape future research projects and clinical trial design
⏳ Duration: ~30 minutes – anonymous
🗓️ Deadline: End of September
👉 Take the survey here: https://www.surveymonkey.com/r/CHZZWLD
LIVE Webinar
For more details click here
Dr. Martina Crispo’s Research Report
We are pleased to present Dr. Marina Crispo’s research project report (Institute Pasteur de Montevideo, Uruguay), entitled “Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay”. This project was funded by the Foundation for the 2024–2025 period.
From left to right: MSc Geraldine Schlapp, Dr. Martina Crispo, MSc María Noel Meikle, Dr. Jorge Luis Pórfido
Recent Publication on ARSACS
We are pleased to share the scientific article entitled ” Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay“, based on the work of Dr. Federico Herrera and colleagues, published in July 2025 in Archives of Biochemistry and Biophysics.
Read the article