Research 2026-2027

We are  grateful to one amazing family from the United Kingdom and their community for organizing a creative fundraiser in support of ARSACS research. Inspired by their son's ARSACS diagnosis earlier this year, they brought together family, friends, and a local...

In this edition, we highlight a study identifying the clinical, radiological, and genetic characteristics of Japanese patients with ARSACS, as well as Dr. Maltecca’s latest research report, which focused on identifying potential therapeutic compounds to address...

In July, Gabriel Paquet-Desbiens will take on a new challenge as part of the Charlevoix–Saguenay Challenge, which he founded in 2022. His goal is to cycle around Lac Saint-Jean—a distance of 250 km—in no more than three days! Gabriel hopes to raise $3,000 in support...

Under the honorary presidency of Mr. Pierre Miron, Executive Vice-President of iA Groupe financier, the Ataxia Charlevoix-Saguenay Foundation is proud to announce the 19th edition of the Dîner des Producteurs, which will take place on Thursday, November 26, 2026, in...

This report by Dr. Francesca Maltecca, PhD, and Erica Spirito, Postdoctoral Researcher, summarizes their work aimed at identifying potential therapeutic molecules to address calcium dysregulation in ARSACS. Their research is part of a two-year project funded by the...

The Foundation is pleased to participate to the scientific conference entitled “Focusing on Rare Conditions: Advances, Challenges and New Horizons in ARSACS,” which will take place in Milan on September 24, 2026. Among the organisers of this unique event is ARSACS...

A new study has identified six novel SACS mutations in Japan, further expanding the known spectrum of autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS). There is a continued momentum in the global effort to better understand ARSACS and support the...

A new research project is now underway to evaluate whether stem cell injections can alter the disease trajectory of ARSACS in Sacs knockout mice. Findings from this study are expected to emerge over the course of 2026.

On November 1, 2024, Christos Scarpinato lost his mother to Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS), a rare and degenerative neurological disease. Two years later, he is taking on a meaningful challenge: running a marathon in her memory and...

Read all about Stefan Strack’s recent report on ARSACS, especially with his work successfully delivering the full-length humain Sacsin in gene therapy. Read the article

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Alterations in the Na+/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS" article published recently in the Cerebellum journal. Read the full report here  

On November 27,2025 the 18th edition of the Dîner des Producteurs took place. The evening was a true success, with nearly $1.4 million raised in support of research. A special thank-you to our guest chef and winemaker: Chef Julien Royer of Odette in Singapore, as well...

We would like to acknowledge the tremendous participation of the Anse Saint - Jean residents at the benefit bingo organized to support the research for children with ARSACS. As a result of their generosity, $13000 was raised. Thank you to everyone who attended, the...

The advances in preclinical studies are promising for the development of a gene therapy for ARSACS and efficacy in symptomatic mice are in progress. To know more about this ongoing research project, click here

As part of the Diner des Producteurs 2025, an ideal opportunity to find exceptional lots while supporting ARSACS research. New this year: you can make a donation to fund directly a clinical trial for the Charlevoix Saguenay Ataxia.Every gesture counts - Don't miss...

The first "Charity Ball" organized by Maxine Monks in the UK on October 11 to support ARSACS research had a great success. Congratulations to Maxine and her team for organizing the event. Thank you to all the volunteers, sponsors and donors for their generosity who...

Thank you to William Harvey and his entire team for their initiative as part of a year-end project at Arvida High School last May. This fundraiser consisted of selling hot dogs and treats. Their donation of $345 is greatly appreciated and will contribute to ARSACS...

ARSACS is around the world. The first clinical case, involving a 3-year-old girl, led to research funded by the Ataxia Charlevoix-Saguenay Foundation. A Radio Canada interview with neurologists from Quebec on the subject. (Interview available in French only).

Do you live with a rare disease, or are you supporting someone who does? Do you want tomake your voice heard and help advance research? Become a partner member of Rare Qc research network. Invitation

The first article "Genetic Analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix- Saguenay" published in BMC Medical Genomics in 2025. Read here. The second article is a case report "Scalp acupuncture...

The Ataxia Charlevoix Saguenay Foundation is pleased to announce the funding of 13 innovative ARSACS projects in 2025-2026 for an investment of $1.150M. A number of these projects have been made possible through a co-funding partnership with the Richardson Trust Fund....

A very interesting article published in September by the Oxford-Harrington Rare Disease Centre featuring Dr. Esther Becker who is conducting ARSACS research and Sonia Gobeil co-founder of the Ataxia Charlevoix- Saguenay. "How Patient Stories Fuel Ataxia Research"