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 #4 – Summer 2025 Edition
In this issue, discover the latest updates from the Foundation, including a newly published scientific article on ARSACS, a preview of the upcoming 2025 Diner des Producteurs, and details about our upcoming participation in the WODC Europe in Amsterdam.
New ARSACS Support Group
Natalie and Rachael Seals, who are personally affected by ARSACS, are starting an online support group.
Upcoming Zoom meetings:
Saturday 2 August at 10am
Saturday 4 October at 10am
Registration required to join.
For details or to sign up: volunteering@ataxia.org.uk
JOIN AN ONLINE STUDY
The Schmahmann Laboratory (Massachusetts General Hospital Ataxia Center, Boston) is conducting a study to validate a new tool for assessing emotional aspects related to the Cerebellar Cognitive and Affective Syndrome (CCAS).
Who can participate?
👉 English-speaking adults (18+) diagnosed with any cerebellar disorder (which includes ARSACS)
What is involved?
👉 Complete 2 short forms and a questionnaire online (~15 minutes)
👉 100% remote and voluntary
The ARSACS Foundation to Present at WODC Europe 2025
We are proud to announce our participation to the World Orphan Drug Congress (WODC) Europe, which will be held this October in Amsterdam. A booth will be displayed to engage with attendees and raise awareness about our mission among international stakeholders in the rare disease community.
Also, we will have the privilege of hosting two sessions:
A gene therapy approach for ARSACS: insights from preclinical models – presented by Drs. Francesca Maltecca and Daniel Di Ritis
ARSACS : Finding Solutions for Rare Disease Patients – Sonia Gobeil, Maxine Monk and Dr. Bart Van de Warrenburg
Review on Recessive Ataxias
We are pleased to share a review published in the journal Annals of Neurology on autosomal recessive cerebellar ataxias, including ARSACS.
PhD and Publication from a Funded Project
A research article from a project funded by the Foundation in 2022–2023 has just been published. This study on cellular models of ARSACS also led to Dr. Fernanda Murtinheira successfully defending her PhD. Congrats to Drs. Fernanda and Federico Herrera for this significant achievement!