News

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”

We are pleased to present Dr. Javier Santos’ research project report, entitled “Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS.” . This project was funded by the ARSACS Foundation for…

People living with a ARSACS (or parent/guardian) are invited to take part in an online survey about gene therapy. 🔹 Purpose: to gather opinions that will help shape future research projects and clinical trial design⏳ Duration: ~30 minutes – anonymous🗓️ Deadline: End…

For more details click here  

We are pleased to present Dr. Marina Crispo’s research project report (Institute Pasteur de Montevideo, Uruguay), entitled “Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay”. . This project was funded by the ARSACS Foundation for the 2024–2025…

We are pleased to share the scientific article entitled ” Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay”, based on the work of Dr. Federico Herrera and colleagues,…

Dr. Benoit Gentil (McGill) was recently awarded significant funding for a project aiming to develop an RNA-based therapeutic approach for ARSACS using nanoparticle technology. This project is being carried out in collaboration with QurCan Therapeutics and Genome…

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. Read it now

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

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…

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…

We are pleased to share a review published in the journal Annals of Neurology on autosomal recessive cerebellar ataxias, including ARSACS. Read article here

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…

Read about this recent scientific publication on ARSACS.The research featured in this article was funded by Associazione ARSACS ODV – Italy, a foundation established by one of the members of our Board of Directors, Dr. Paolo Arrigoni. Read the article

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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…

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…

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…

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…

In this edition, dive into recent scientific articles and discover our upcoming initiatives to support research. Read it now

A huge thank you to Ms. Annie Tardif for her outstanding commitment! On March 23, she organized a Zumbathon in honor of a family close to her with two children affected by ARSACS. All donations were given to the Foundation to support research and families impacted by…

Stay updated on the latest ARSACS research advancements, our recent events, and upcoming initiatives to drive progress. Read it now

The scientific article titled ‘Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS’, by Dr. Daniele Galatolo and his team, was published in The Cerebellum in January 2025. Read the article

Discover the journey of Betsy Trainor, board member of the Ataxia Charlevoix-Saguenay Foundation, and her commitment to research. Thanks to the Foundation’s funding, Dr. Schmahmann is studying an FDA-approved drug to assess its potential for ARSACS. Read the article

A Charity Ball will be held on October 11, 2025, in the UK, in support to ARSACS research. Stay tuned for more details! For inquiries, contact Maxine Monks : max1436@googlemail.com

Discover the latest scientific developments on ARSACS, as well as our participation in upcoming webinars and conferences. Read it now

https://www.youtube.com/watch?v=MwOxSuueGKw Webinar date: February 14, 2025, at 12:00 PM

https://www.ataxia.org/event/all-about-arsacs/ https://www.ataxia.org/event/research-and-treatment-development-for-arsacs/

The Ataxia Charlevoix-Saguenay Foundation is thrilled to welcome Mrs. Catherine Groleau to its Board of Directors. Her extensive expertise and dedication will be invaluable in advancing the Foundation’s mission.

Thanks to your incredible generosity, this year’s Dîner des Producteurs raised a record-breaking amount of $1.5 million to support research. A huge thank you to:​ Our honorary chairs, Mr. Bigras and Ms. Lafleur, for their inspiring leadership.​ Our generous sponsors…

Be among the first to explore this new way of supporting our cause while securing exclusive and unforgettable items.​ This initiative is part of our Dîner des producteurs, taking place on November 28, 2024, under the honorary presidency of Mr. Claude Bigras and Ms….

A Gene Therapy project receives $1.14M from the Canadian Institutes of Heath Research (CIHR). The project will be led by Dr. Carl Ernst from the Neuro in Montreal. Sonia Gobeil, co-founder of the Ataxia Charlevoix- Saguenay Foundation, will provide the family…

The Charlevoix-Saguenay Ataxia Foundation is honored to receive a donation of $340,000 from the Richardson Research Trust. We extend our sincere gratitude to Mr. Lawrence and Mrs. Lucille Richardson for their generosity, which plays a vital role in driving our mission…

The Ataxie Charlevoix-Saguenay Foundation is pleased to announce the arrival of Ms. Marie-Eve Duguay as Director.​ With her extensive experience in the healthcare field, Marie-Eve will oversee operations while developing strategic partnerships and optimizing internal…

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The Ataxia Charlevoix -Saguenay Foundation is pleased to announce the funding of 10 innovative research projects in 2024-2025. This is an investment of $850,000 aimed to understand the underlying causes of ARSACS and to develop effective treatments.  Congratulations…

An International Ataxia Day conference will be held in Portugal on September 25, 2024. This event is organized by Mr. Carlos Neves, Portuguese Association of Hereditary Ataxias and Mrs. Susana Reis, Podcast Ataxia e Agora. Dr. Federico Herrera, member of the ARSACS…

Sonia Gobeil (Co-founder of the Ataxia Charlevoix-Saguenay Foundation) and Betsy Trainor (Board member of the Foundation) will be part of the Patient and Advocacy Panel at the Genetic Counsellors Conference in Quebec City, September 25-28, 2024. The complex journeys…

Dr. Federico Herrera has received funding from UK Ataxia for his ARSACS research project “Towards a pharmacological model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)”. Dr. Herrera is part of the ARSACS research team.

Article published in the McGill Reporter regarding Dr. Benoit Gentil’s gene therapy research and the $200,000 strategic and financial partnership between the Foundation and NeuroSphere.

“Reduction of Sacsin in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix- Saguenay” research conducted by Dr. Francesca Maltecca and her team has been published in the Brain Communications Journal on July 18, 2024. The research…

To contribute to ARSACS research, Guillaume Bourgeois has created a new game which consists of placing all the pieces of a puzzle so as to only show today’s date. Every day, a new solution and therefore a new challenge.  The profits will be donated to the Foundation….

Following the scientific PROSPAX publications on ARSACS in the National Library of Medicine, a layman summary of the 2 articles is now available. Special thanks to Scarlett Parr-Reid from Ataxia UK, Drs Sirio Cocozza and Matthis Synofzik from PROSPAX for their…

First PROSPAX results are published in the National Library of Medicine. The first 2 publications are related to ARSACS. The Foundation is one of the 3 patient advocacy organisations participating in the PROSPAX consortium. PROSPAX, a project launch in September 2020,…

“Identifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients” – research report from Dr. Mohan Babu (University of Regina). . This project was funded by the ARSACS Foundation in 2022-2023.

“Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay”-Dr. Strack’s research published in The Cerebellum in May 2024.

Interview with Sonia Gobeil, co-founder of the Ataxia Charlevoix- Saguenay Foundation, on the ARSACS research progress. Interview at TVA Nouvelles on May 3 is available only in French.

The Ataxia Charlevoix Saguenay Foundation and NeuroSphere are pleased to announce a strategic and financial partnership of $200,000 to support Dr. Benoit Gentil’s research project. This partnership, described as innovative and with high potential, aligns perfectly…

“Therapeutic Approaches for ARSACS” – research report from Drs. Benoit Gentil and Heather Durham (McGill University). . This project was funded by the ARSACS Foundation in 2022-2023.

“ Elucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS” research report from Dr. Watt and Dr. McKinney (McGill University). . This project was funded by the ARSACS Foundation in 2022-2023.

Founded in 2021, Critical Path for Therapeutics for the Ataxias (CPTA) is a consortium focused on accelerating therapeutic development for Ataxias. The Ataxia Charlevoix- Saguenay Foundation is a member of the consortium. Consortium Hig hlights and Achievements.

Thank you to Mr. Benoit Riverin and Mr. Jean-François Tremblay for organising a fundraiser to support ARSACS research. Their initiative raised awareness in the community and contributed to a cause that is close to our hearts. An amount of $6,150 was raised during an…

The Foundation and the GRIMN research team is pleased to introduce an exercise program tailored specifically for individuals affected by ARSACS. According to the medical community, an exercise program developed according to the person’s capabilities can improve the…

This project is jointly funded by the Ataxia Charlevoix- Saguenay Foundation and the Massachusetts General ARSACS Fundraiser, fund created by families in the USA. Recent studies and clinical trials have demonstrated that omaveloxolone (brand name Skyclarys) can…

By purchasing Ally’s special ARSACS promotion items, you not only get a fantastic product but also contribute directly to the ARSACS cause. Every item you buy goes towards supporting the ARSACS research. Visit actionforally.com to browse the collection and make a…

The PROSPAX (PROgression chart of SPAstic ataXias) project, which focuses on ARSACS and SPG7 ataxias , is a collaborative effort between neurologists across several sites throughout Europe and Canada. The overall aim is to gain a better understanding of how spastic…

The Organizzazione di volontariato (ODV) finances Dr. Roberto Giambruno’s research “Alterations of SACSIN RNA-binding properties are connected to the development of ARSACS” in 2024-2025 . ODV, a volunteer organization in Italy founded by Susanna Deluca and…

The Ataxia Charlevoix- Saguenay Foundation is pleased to announce that Mrs. Carole Gailloux has joined its Board of Directors. “Mrs Gailloux brings a wealth of experience and expertise to our team with a skill set that will undoubtedly enrich our Board strategic…

The Foundation is inviting researchers to submit their ARSACS projects. We are seeking innovative and impactful research projects that will contribute significantly towards the development of a treatment for ARSACS. New this year: “start-up financing offer” (Seed…

The Ataxie Charlevoix-Saguenay Foundation is very pleased to announce that Dr. Marc Rivière has joined its board of directors. An executive with extensive experience creating and managing clinical programs, Dr. Rivière’s expertise encompasses all aspects of drug…

This invitation is opened to all participants around the world, not limited to USA patients. Looking for people who are 18 years or older who speak English and have a confirmed ARSACS diagnosis . The objective is to interview all participants (1 hour video call) in…

Dr. Benoit Gentil’s article on the functions of sacsin has been published  in preprint – “Interactors of sacsin’s DNAJ domain identify function in organellar transport and membrane composition relevant to ARSACS pathogenesis  ׀ BioRvix”. The article has been submitted…

The Foundation is pleased to announce that Dr. Chapple has received a grant to continue his second year ARSACS research entitled “Metabolic rewiring in cellular models of ARSACS”.

Research report “Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects ” – Dr. Daniel Galatolo (IRCCS Fondazione Stella Maris, Pisa, Italy). . This project was funded by the ARSACS Foundation in 2022-2023.

“Towards glial-targeted therapies of ARSACS” final research report from the research team of Drs. Herrera and Fernandes (University of Lisbon) and Dr. Adams ( Bilkent University in Turkey). This project was funded by the Foundation in 2022-2023.

During this Holiday Season, here is an inspiring video of friendship, generosity and community support for the ARSACS cause. Last Fall, Gabriel and Olivier , two childhood friends, took up the Défi Charlevoix- Saguenay and raised $15, 000 for ARSACS research….

The Ataxia Charlevoix-Saguenay Foundation is pleased to announce the newest member of its Board of Directors. As vice-president at Neuron23, Dr. Luc Desnoyers is leading the biomarker and diagnostics efforts to move programs from the late-stage research to clinical…

Major highlights of the ARSACS Symposium held in October. Thank you to Dr Justin Wolter for his dedication in providing this summary.

The funds raised will play a crucial role in funding research projects and paving the way for a clinical trial. Therefore, bringing us one step closer to providing hope and relief to those affected by ARSACS. We want to express our deepest gratitude to our donors,…

“Molecular rewiring in cellular models of ARSACS ” research progress report from Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine, London, UK. Report for the first year of the project financed by the Foundation.

This Giving Tuesday, we are rallying support for ARSACS research—a cause that holds immense significance for those affected by this rare genetic condition. Your contribution, no matter the amount, can play a crucial role in funding research that brings us closer to a…

As part of the TREAT ARCA project, a webinar was held in September 2023 to demystify the world of gene therapy!. It was designed to break down the complexities of gene therapy into easy-to-follow concepts. Discover its potential to shape the future of medicine. Gene…

Opening remarks by Sonia Gobeil, cofounder of the Foundation

Deadline: November 23, 2023 to submit your project. The ARSACS Organizzatione Di Volontariato (ARSACS ODV) in collaboration with Telethon is financing “seed” research projects for a 12-month period with a maximum budget of €50,000. More details.

“I am pleased to have the opportunity to ensure that in every major decision the organization makes, the needs of patients and care givers will be considered. As the parent of children with a rare disease and co-founder and president of a foundation dedicated to…

The ARSACS Organizzatione Di Volontariato (ARSACS ODV) in collaboration with Telethon is pleased to announce an opportunity for researchers to work on ARSACS . The initiative aims to finance “seed” research projects for a 12-month period with a maximum budget of…

Join us on October 19 and 20 at the 7th International Symposium on ARSACS. A great opportunity to learn about the latest advancements in ARSACS research. It will be an in-person and virtual event. It is free and open to all. Registration

The Ataxia Charlevoix Saguenay Foundation is pleased to announce the funding ofsix innovative research projects in 2023-2024. Press Release.

Gabriel Paquet- Desbiens and Olivier Houde , two childhood friends, accomplished their Défi Charlevoix- Saguenay to help finance research for the Charlevoix- Saguenay Ataxia, from which Gabriel is affected. They covered 143Km by cycling or jogging last weekend. The…

A great opportunity to learn about the latest advancements in ARSACS research and to meet the ARSACS research team. You can attend this free scientific symposium either in-person or on-line.  New this year, a panel discussion with ARSACS patients, carers and partners….

“Preclinical studies in the Sacs KO mouse model of ARSACS”- research project under the leadership of Dr Stefan Strack from University of Iowa, USA

As part of a program at improving worker health, Rio Tinto et 3 business companies from Saguenay donate $2,887.50 for ARSACS research. Thank you to the donors and the organizers for their generosity. Photo from L to R, Mr. Etienne Fortin (Rio Tinto), Georges Perron…

“A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS”– ARSACS research by Drs. Watt and McKinney from McGill  published in the Neurobiology of Disease journal in May, 2023. Research funded…

ARSACS research by Dr. Maltecca and her team published in the JCI insights in May, 2023. “Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model”