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
Diner des Producteurs 2025
Sonia Gobeil Interview with CheckRare
Last April, Sonia Gobeil was interviewed by CheckRare during the World Orphan Drug Congress (WODC). This is a valuable opportunity to raise awareness for ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay) and to highlight the importance of ongoing research for rare diseases.
Watch the interview here: https://checkrare.com/ongoing-research-for-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay/
The Foundation at the 2025 World Orphan Drug Congress
From April 22 to 24, the Ataxia Charlevoix-Saguenay Foundation was present at the World Orphan Disease Congress (WODC), a major event gathering global leaders in the field of rare diseases and orphan drugs.
We had the privilege of:
Presenting the progress in the development of a gene therapy for ARSACS, with Alexandre Paré (PhD candidate at McGill).
Leading an inspiring roundtable on the real-life challenges faced by patients, with Sonia Gobeil, Betsy Trainor and Dr. Jeremy Schmahmann (Harvard Medical School).
Foundation-Funded Project Featured at ASGCT 2025
A research project led by Dr. Benoit Gentil and funded by the Foundation will be presented at the American Society of Gene and Cell Therapy (ASGCT) annual meeting, a key event in the field of gene and cell therapy.
In parallel, we are making the presentation video titled “Ataxia of Charlevoix-Saguenay Foundation & Gene Therapy Project: An Innovative Approach” available here: https://www.youtube.com/watch?v=48QcM3-2Tpc
Dr. Simon Girard’s Research Report
The final report of the research project “Discovery of New ARSACS Modifier Genes in the Saguenay Founder Population” led by Dr. Simon Girard is now available.
Funded by the Foundation for the 2023-2024 period, this project has provided genealogical data for 166 patients and has helped identify the founding couple responsible for the haplotype associated with the c.8844delT variant. These data have been combined with phenotypic data to identify modifier genes. Although no modifier gene have been identified at this stage, further analyses are underway to explore subgroups of patients.
Newsletter #3 – Spring 2025 Edition
In this edition, dive into recent scientific articles and discover our upcoming initiatives to support research.