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.
Invitation to the Diner des Producteurs on Thursday December 2, 2021.
The Ataxia Charlevoix-Saguenay Foundation cordially invites you to its annual fundraising “Le Diner des Producteurs” under the honorary presidency of Mr. Marc Bédard, President and founder of Lion Électrique. Invitation
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
ARSACS research published in Frontiers Journal
The research by Drs Alanna Watt and Anne Mckinney “Molecular identity and location influence Purkinje cell vulnerability in ARSACS mice” has been published in the Frontiers Journal. At this time, only the abstract is available. The manuscript will be on line shortly. It is open-access, which means that once the link is up, anyone will be able to download it.
$735,000 allocated to 9 ARSACS research projects in 2021-2022
The Foundation is pleased to announce that 9 research projects will be funded for a total of $735,000 in order to continue ARSACS research. The projects were selected based on their scientific value. It is very encouraging to see the collaboration and the sharing of knowledge between researchers from different countries to advance research. Project description.
Invitation to Le Diner des Producteurs under the honorary presidency of Mr. Marc Bédard
Research on mobility in walking adults with ARSACS published in Orphanet Journal of Rare Diseases
Research done by Dr C. Gagnon and her team published in Orphanet Journal of Rare Diseases. “Functional mobility in walking adult population with ataxia Charlevoix-Saguenay”, the first study to focus on adult walkers with ARSACS, was funded in part by the Foundation.
Dr. Maltecca’s ARSACS research paper published in Neurology
The research, funded by the Foundation and entitled “Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”, has been done by Fabiana Longo and the group headed by Francesca Maltecca at Ospedale San Raffaele, Milan, Italy. The study shows that sacsin is almost absent in a large set of ARSACS patient skin fibroblasts, regardless of the nature of the mutation. Nascent mutant sacsin undergoes preemptive cotranslational degradation, a mechanism that emerges as a novel cause of a human disease. These findings have important implication for diagnosis and genotype-phenotype correlation. We indeed propose that sacsin levels should be included in the diagnostic algorithm for ARSACS.
Invitation to the ARSACS International Symposium
Invitation to the 6th ARSACS International Symposium to be held on November 4th, 2021. Keynote speaker Dr. Schmahmann from the Massachusetts General Hospital. Half-day virtual conferences, free registration, opened to all. See Program. Please do not hesitate to share this invitation with anyone who could be interested in the latest ARSACS research. Register now .