Ataxia Charlevoix-Saguenay Foundation
In 2006, the Foundation was created and funded the first research to be undertaken since the identification of the Ataxia gene in 2000. It was crucial to begin research in order to discover a treatment for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Since its creation, the Foundation has funded several research projects related to this neurological disorder. The Foundation is a charitable organization and is supported entirely by private donations and volunteers who support the cause.
Research Objectives
The main research objective of the Ataxia Charlevoix-Saguenay Foundation is to develop a treatment for ARSACS. Every year the Foundation financed several research projects in Canada and abroad. The efforts of the Foundation are concentrated currently in three main research areas:
Financing of several promising research projects with reearchers that are experts in this field.
Forming partnerships with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.
Conducting clinical trials
Scientific Advisory Board
All applications for research grants are evaluated by the Scientific Advisory Board of the Ataxia of Charlevoix-Saguenay Foundation according to specific criteria.
Research Grants
To further encourage and accelerate the development of a treatment for ARSACS, the Ataxia Charlevoix-Saguenay Foundation provides grants and opportunities to researchers.
This year, the call for proposals of the Ataxia of Charlevoix-Saguenay Foundation is jointly supported by the “Richardson Research Fund” to fund ARSACS research projects.
As part of this funding offer, the Ataxia Charlevoix-Saguenay Foundation in collaboration with the “Richardson Research Fund” offers up to a maximum of $100,000 CAD per project and up to $25,000 CAD per project to support start-up initiatives (Seed Grant).
Both types of grants are awarded for a 12-month period, with the possibility of renewal. For more information and to apply : ARSACS Call for Proposals and Application Form.
ARSACS Research Projects
2025-2026
The Foundation would like to thank the Richardson Trust Fund for its generous contribution of $150K in order to jointly fund 3 research projects.
OdV ARSACS is supporting ARSACS research across Italy.
Once again, OdV ARSACS — a charitable organisation founded in Italy by Susanna Deluca and Dr. Paolo Arrigoni — in collaboration with Fondazione Telethon for the seed grant, is supporting ARSACS research across Italy. Dr. Francesca Maltecca (Vita-Salute San Raffaele…
The National Ataxia Foundation (NAF) is funding a new research project led by Dr. Justin Wolter
Congratulations to Dr. Justin Wolter, whose research project entitled « Characterizing the Proteomic Landscape of Selective Neuronal Vulnerability in ARSACS » has been selected for funding by the National Ataxia Foundation. Dr. Wolter has been awarded a one-year…
“Understanding trafficking defects in ARSACS to identify therapeutic targets for disease” – Dr. Paul Chapple
Our previous research has shown that the ARSACS protein sacsin is essential for proper trafficking of other proteins to the cell surface. In the absence of sacsin this process is disrupted, which may lead to the aberrant localisation of key neuronal proteins, stopping…
“Modelling ARSACS in human in iPSC-derived cerebellar organoids ” – Dr. Esther Becker
This project aims to create three-dimensional disease models called ‘organoids’ using induced pluripotent stem cells (iPSCs) from ARSACS patients. Human iPSCs are obtained from individuals’ skin cells by a process known as reprogramming and resemble stem cells present…
“Targeting Scn4b as a therapy to rescue ataxia in a mouse model of ARSACS” – Dr. R. Anne McKinney
As cerebellar dysfunction is thought to underlie ARSACS pathology, work from the McKinney lab focus on identifying novel disease-causing mechanisms in a mouse model of ARSACS, as well as implementing new therapeutic approaches to ameliorate cerebellar function and…
“Redefining ARSACS: Exploring TDP-43 Proteinopathy as a Novel Pathogenic Mechanism ” – Dr. François Gros-Louis
Our research project aims to improve our understanding of ARSACS. Through an in-depth analysis of the brain of a deceased patient who generously consented to organ donation for research purposes, we identified abnormalities like those observed in…
“Scalable therapeutic testing in the ARSACS mouse” – Drs. Justin Wolter & Huaxia Wang
Our project aims to accelerate drug discovery for ARSACS by using advanced single nucleus RNA sequencing (snRNAseq) to test 8 therapeutic candidates in the ARSACS mouse model (including ongoing studies led by Drs. Gentil/Durham, and Drs. Lim/Schmahmann). Unlike…
“Therapeutic Approaches for ARSACS”- Dr. Benoit Gentil and Dr. Heather Durham
This research focuses on developing a potential gene therapy for ARSACS, a rare inherited neurological disease. Scientists created a smaller version of the faulty protein (called minisacsin) that can fit into a viral vector for delivery to nerve cells. In mouse…
“Structural Determination of Sacsin” – Dr. Walid Houry
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was described in 1978 as a unique form of ataxia accompanied with motor speech anomalies, muscle wasting phenotypes, and peripheral nerve complications. Genetic studies have established that ARSACS is…
“Developing conditional mouse models and new approaches to treating ARSACS” – Dr. Stefan Strack
The Sacs knock-out (KO) mouse is a faithful model of ARSACS, displaying ataxia, muscle weakness, cerebellar degeneration, and, as we have recently shown, learning and memory deficits. With this proposal, we seek to pharmacologically rescue motor- and cognitive…
“ Targeting Cav2.1 to recover firing defects and degeneration of Purkinje neurons in ARSACS ” – Dr. Francesca Maltecca
A central theme in cerebellar ataxia is mutations in genes encoding calcium regulatory genes, highlighting the selective vulnerability of Purkinje neurons to alteration of calcium fluxes. We have recently demonstrated that the Voltage-Gated Calcium Channel (VGCC)…
“Characterization of Clinically Relevant Compounds Modulating the ARSACS associated Phenotyре” – Dr. Mohan Babu
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited disease that damages the nervous system and muscles, caused by faults in a protein called sacsin. There is currently no cure, and existing treatments only ease some symptoms. To…
“Exploring the contributions of DCN alterations to cerebellar dysfunction in ARSACS” – Dr. Alanna Watt
In ARSACS, the cerebellum, critical for coordination and balance, is one of the most affected brain regions. Within the cerebellum, communication between Purkinje cells and the cerebellar nuclei, which helps integrate signals and execute coordinated movements, begins…
“Unveiling the Role of Microglia in ARSACS: A Multi-Model Approach Integrating Human Microglial and Zebrafish Models” – Dr. Devid Damiani
As many other neurodegenerative diseases, ARSACS is also a matter of inflammation. Recent researches clarified that high levels of Sacsin protein are present in astrocytes and microglia, the cell populations of the brain that act like principal mediators of…
“Advanced MRI studies to achieve microstructural insight and identify imaging biomarkers in ARSACS ” – Dr. Roberta LaPiana
The involvement of the corticospinal tracts (CST) and cerebellum are the disease hallmarks of ARSACS. Previous radiological studies documented the presence of specific findings which were described as linear hypointensities in T2-weighted images at the level of…
“Exploring the Role of Sacsin on Blood-Brain Barrier Cell Structure, Behavior and Function” – Dr. Federico Herrera
Loss of sacsin affect neurons in the cerebellum, but the role of other, non-neuronal brain cells in ARSACS has been less studied. The team discovered high amounts of sacsin in the cells that form the blood-brain barrier—a protective layer that keeps harmful substances…
“A transcriptomic approach to drug discovery against ARSACS ” – Dr. Nicolas Dupré
This project aims to discover new therapeutic targets and potential drugs for ARSACS by combining blood samples from patients with advanced iPSC (induced pluripotent stem cell) technology and artificial intelligence (AI). The team will analyze gene expression patterns…