News

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 and partners, for their invaluable support.​
• Our dedicated volunteers, without whom this evening would not have been possible.​
• And especially to YOU, participants and donors, for making this event a true success!​

All funds raised will go directly to research, bringing us closer to concrete solutions.​

Your support makes all the difference. Thank you again for your solidarity and generosity!

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. Andrée Lafleur.​

Join us today and be sure to share the link with your friends and network!​

https://www.mycause.bid/ataxie

Thank you for your generosity and commitment to our cause. Together, let’s make a difference.

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 perspective for the researcher team. “This grant will really help us move forward with new ways to more rapidly get treatments to patients with rare disease” says Dr. Ernst. Announcement.

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 forward.​

“In support of our daughter and all those affected by this neurological disease, we are pleased to contribute to ARSACS research and the preparation of a clinical trial.” – Mr. & Mrs. Richardson.

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 processes. She will play a key role in coordinating the Foundation’s activities.

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 to the following 2024-2025 awardees!

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 research team, will be presenting his ARSACS research. Details. Program.

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 of rare disease patients will be discussed. With themes of challenges coupled with hope, the panel will discuss advocacy efforts supporting rare disease patients and the many obstacles associated with supporting research for rare diseases.

CAGC Program.

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 has been funded by the Foundation. Lay summary or Full article in the form of accepted manuscript.

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. To purchase the puzzle ($40), send an email to:  defimeninges@gmail.com

Every day, people post their solutions via a Messenger group to encourage each other and support the cause. To join the group or for any additional information : https://linktr.ee/defimeninges 

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 collaboration. Layman summary

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, was a novel collaborative effort between several neurologists across Canada and Europe. This ambitious project aimed to study the progression of spastic ataxias over time.

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.

“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 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 with the respective missions of the Foundation which aims to support the development of a treatment for ARSACS and the NeuroSphere group, whose objective is to promote innovative projects in neuroscience. Communique.

“Therapeutic Approaches for ARSACS” – research report from Drs. Benoit Gentil and Heather Durham (McGill University). This project was funded by the 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 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 Highlights 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 auction held on February 25th in Jonquière.

Thank you to all donors and to Mr. Marco Houde, Olivier Houde and Gabriel Paquet who spoke at this event. Their testimonials have been inspiring.

Photo : Funds given to the Foundation

L to R : Mr. Benoit Riverin, Sonia Gobeil from the Fondation and Mr. Jean-François Tremblay.

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 physical condition.

Before starting the program , it is crucial to undergo an assessment conducted by a qualified physiotherapist. The first part of the document provides the physiotherapist with the procedures for the evaluation and assignment of the initial level of difficulty of the exercises. The exercise program is divided into 3 areas (sitting balance, standing balance and sitting-standing transfer) with photos and videos.

The document will open in French but the reader can select the language on the right side of the screen (view the program either in French or English). EXERCISE PROGRAM

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 improve clinical symptoms in Friedreich’s ataxia. Drs. Schmahmann and Lin from Harvard University will administer Skyclarys to a mouse model of ARSACS and investigate whether Skyclarys can change the disease course in these mice. We believe the findings of the proposed study will be critical in determining whether omaveloxolone is appropriate for clinical trials in ARSACS.

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 purchase today.

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 ataxias progress over time to prepare well-designed treatment trials for these conditions . This is called ‘trial-readiness’. The Foundation is the Patient Advocacy Organisation on that project. More details .

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 Dr. Paolo  Arrigoni, a member of the Foundation’s Board, is dedicated to the ARSACS cause. Fondazione Telethon is an Italian non-profit organization which finances scientific research projects on rare diseases. 

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 planning efforts” mentionned Jean Groleau, president.

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 Grant) in addition to the standard financing grant.

To submit your proposal :

Application Form

ARSACS Call for Proposal

Submission Deadline: May 24, 2024

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 development.

His experience in clinical trials and his knowledge of the pharmaceutical industry could make a significant contribution to the advancement of work on ARSACS. Dr. Rivière is a General Partner and Chief Medical Officer at TVM Life Science Management.

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 the next 6 weeks. For details click here.

To participate in the survey or if you have any questions, please contact the study coordinator.

Thank you very much for considering participating in this study. Your contribution is very valuable to our research efforts.

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 for peer review.

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 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. Congratulations Gabriel and Olivier for your accomplishment and thank you to all volunteers, partners and donors! (Video in French only)

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 proof of concept. He has a vast experience in the biopharmaceutical industry.

“Dr. Desnoyers, with his specific areas of expertise, will contribute to our strategic directions and be instrumental in helping us prepare for clinical trials”  mentioned Jean Groleau, president of the Foundation.

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, partners and dedicated volunteers who worked tirelessly to make this event a success. This achievement would not have been possible without each and every one of you. (Photo by Vincent Morreale)

“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 clinical trial and finding a treatment. By supporting ARSACS research, we are investing in hope and progress. Join us in making a difference. To donate please visit Donate now.

Thank you for your contribution.

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 Therapy webinar.

200 registrants at the Symposium, a scientific event on ARSACS research. The discussions were dynamic and highlighted the latest advancements in research. The symposium definitely fostered collaborative thinking. The active participation, insightful contributions, and enthusiasm made the event truly exceptional. “Thank you to all the researchers, neurologists, patients and their families, sponsors and the public who participated and worked towards improving the well-being of people affected by ARSACS. Special thanks to the Neuro for its valuable support in organizing this event” Sonia Gobeil, co founder of the Foundation . View the recordings of the event: ARSACS Symposium Oct 19, Oct 20 am, Oct 20 pm. Some presentations.

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 medical research, I recognize the importance and, above all, the urgency of accessing new innovative medical therapies” mentioned Me Jean Groleau during his appointment to the board of directors of Catalis.

Launched in 2017, CATALIS’ mandate is, among other things, to facilitate collaboration between the various actors and to accelerate the development of innovative treatments.

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 €50,000. The organisation of volunteers, created in December 2018 in Milan, works very closely with the Foundation. Deadline: November 23, 2023. More details.

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 of
six 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 Foundation thanks the two champions for their courage as well as the volunteers, partners and donors who contributed to this success! Article ( French Version only).

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.

Register now.

View the program.

We hope to see you there!                                                                                                                                                                                                                            

“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 (JE Perron), Carl Émond (Claveau et Fils), Jeannot Savard (Excavation de Chicoutimi Inc.), Gabriel Paquet (Défi Charlevoix-Saguenay) and Carl Bourgeois (representing the Ataxia Charlevoix-Saguenay Foundation).  

“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 by the Ataxia Charlevoix-Saguenay Foundation.

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”

Join us for an unique opportunity to learn about the latest advancements in ARSACS research.

As an accredited satellite meeting of the 2023 World Congress of Neurology (WCN), the ARSACS Symposium will be held immediately following the WCN on October 19 -20 in Montreal. It is a free scientific in-person and virtual event open to all.

To view the program.

Registration open now.  

We hope to see you there!                                                                                                                                                                                                                            

Summary of the progression report for the project “Unravelling defective trans-synaptic signaling in ARSACS” under the leadership of Dr. Francesca Maltecca, a research funded by the Foundation in 2021-2022.

The International Congress for Ataxia Research (ICAR) and the Ataxia Global Initiative (AGI) were held between November 1st – 4th 2022 in Dallas, Texas, USA.

In order to become ready for clinical trials, it is important that outcomes can measure the progression of ataxia and any response to treatment. At the ICAR conference , PROSPAX coordinator Professor Matthis Synofzik gave a presentation on developing outcomes that are meaningful and relevant to people. He presented the results of two PROSPAX surveys which were completed by people with ataxia and HSP.

At the Ataxia Global Initiative (AGI) Conference , Professors Synofzik and Schüle presented the PROSPAX natural history study data from 97 people with SPG7 and 72 people with ARSACS. Highlights of the conferences.

Mid term report for the research project by Drs. Federico Herrera (University of Lisbon), Adelaide Fernandes (University of Lisbon) and Michelle Adams (Bilken University, Turkey). This project  is funded by the Foundation in 2022-2023. English version and also in portuguese Versão em português.

ARSACS research, conducted by Dr. Dupré and his team from the CHU de Québec and Laval University, was published in the Stem Cells International Journal on April 15, 2023. “In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay”

“Creating an Open Science Repository of ARSACS hiPSCs” – a report on the progression of the project under the leadership of Dr. Nicolas Dupré, research funded by the Foundation in 2020-2021.

In November 2022, Ataxia UK, the National Ataxia Foundation (NAF), and the Friedreich’s Ataxia Research Alliance (FARA) co-hosted the International Congress for Ataxia Research (ICAR) in Dallas, Texas, USA, one of the largest gatherings of ataxia researchers to date. The Ataxia Global Initiative (AGI) conference was held immediately after ICAR 2022. Both conferences included researchers, pharmaceutical companies and patient group representatives. Highlights of the conferences.

Dr. Paul Chapple’s research article “AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein Sacsin reveals key residues for ATPase activity“ was published in Frontiers in Molecular Biosciences in January 2023. The research team used a new technology, AlphaFold – an AI program which performs predictions of protein structure, to look more closely at Sacsin structure and whether it is really like a Hsp90 molecular chaperone, which the data indicates it is. The research on Sacsin/ARSACS was supported by grants from the Ataxia Chalevoix-Saguenay Foundation.

Gabriel Paquet Desbiens and Olivier Houde launched a huge challenge to raise funds for the Foundation to pursue its mission. These two childhood friends will cycle or run from Baie St-Paul to Ville de la Baie in three days starting September 15. Gabriel is affected by ARSACS. Article Quotien.

Let’s support them by making a donation via GoFundme Défi Charlevoix-Saguenay.

Thank you for your generosity.

The Foundation is inviting you to send your research proposal. The research grant could be as high as $100,000 for a 12-month period and with possibility for renewal. The Scientific Advisory Board of the Foundation will evaluate each application.

Call for Proposal, Application Form and ARSACS Appendix.

Application Deadline : May 26, 2023.

As part of the Sami Fruits pour les Petits Foundation 2022 Gala, Mr. Flavio Condo, director of the Foundation, presented on February 8 a $50,000 check to Mrs. Sonia Gobeil from the Ataxia Charlevoix-Saguenay Foundation. This amount will directly contribute to the financing of research projects geared to find a  treatment. The Ataxia of Charlevoix-Saguenay Foundation wishes  to thank the Sami Fruits Foundation for this important contribution. “This is a major support” highlighted Sonia Gobeil.

“Synchrotron Light provides the first clues that ARSACS might involve an altered metallome” according to the research results of Dr. Graham George and his team. This research project entitled “Understanding the role of Metals in ARSACS” was funded jointly by the Foundation and the Richardson Research Fund in 2020-2021.

On behalf of the persons living with ARSACS, their families and the Foundation, thank you to all of you for your generosity : Mr. Vincent Chiara, Honorary president, sponsors, partners, donors and volunteers. With your support, the Foundation can pursue its mission to develop a treatment for ARSACS. The Diner des Producteurs , a major fundraising event, was held in Montreal on October 27, 2022.

The Krogan Lab researchers are currently performing mechanistic follow-up studies on a subset of the protein-protein interactions they  identified.  Summary of recent findings.

Drs Justin Wolter and Paul Chapple’ s ARSACS research “Multi-omic profiling reveals the ataxia protein sacsin
is required for integrin trafficking and synaptic organization” has been published in the Cell Reports on November 1, 2022. Furthermore, the University of North Carolina has issued a press release. Both researchers have been funded in part by the Foundation.

As part of its mission, the Foundation is financing 15 teams of researchers in Quebec/Canada and internationally for a total amount of $940,000 for 2022-2023. 10 promissing projects whose objective is to discover a treatment for ARSACS. Project description.

Thank you for participating in the PROSPAX surveys! There was a good response and your input will be used to develop an assessment tool to measure changes in a person living with ARSACS over time. Survey results.

Mr. Chiara, president and founder of MACH, is one of the main players in the real estate field in Quebec and Canada. The 15th edition of the “Diner des Producteurs”, annual fundraising event for ARSACS, will take place on October 27,2022. Reservation form.

In July 2022, the PROSPAX and TREAT-ARCA consortia held a joint annual meeting in Berlin, Germany, including researchers, clinicians, and representatives from Euro-ataxia and the Ataxia Charlevoix-Saguenay Foundation. A fantastic opportunity for researchers around the world to meet, discuss ideas, and together contribute to research advancement. Summary.

Dr. Mohan Babu’s article was published by Elsevier in September 2022. Dr. Babu is part of the ARSACS research team and has received funding from the Foundation for this project. Elsevier is an academic publishing company specializing in scientific, technical, and medical content.

Research report from Dr. Paul Chapple, Barts and London Queen Mary’s School of Medicine and Dentistry, London UK – a 3 year project financed by the Foundation.

30 countries are represented in the ARSACS International Patient Registry. Map of registrants. To all of you who are registered, thank you for your participation and for helping the research. The registry is an essential tool for advancing research and for clinical trials.To register.

“Structural Determination and Super Resolution Imaging of Sacsin” research report under the leadership of Dr. Houry from the University of Toronto and funded by the Foundation in 2021-2022.

The TREAT-ARCA project, which began in June 2021, is a pre-clinical research project focused on two rare ataxias: ARSACS and COQ8A-ataxia. The objectives are to test promising repurposed and novel drugs for ARSACS, to test gene therapy and identify and validate biomarkers. The Foundation is pleased to represent  the ARSACS patients on the research project. Project Description.

Research report from the Krogan Lab at UCSF for the project “Discovery of new targets for therapeutic interventions in ARSACS disease”, project under the leadership of Dr. Nevan Krogan and funded by the Foundation in 2020-2021.

“Recessive cerebellar and afferent Ataxias – clinical challenges and future directions”, research article by Dr. Nicolas Dupré and his team published in the Nature Reviews | Neurology journal on March 24, 2022.

The Organizzazione di volontariato (ODV) finances 2 ARSACS projects with the support from the Fondazione Telethon. Project details.

ODV is a volunteer organisation founded by Susanna Deluca and Dr. Paolo  Arrigoni and dedicated to the ARSACS cause. Telethon is an Italian non-profit organisation involved in scientific research on rare diseases. Telethon managed the call and the peer review process for this research.

In light of Rare Disease Day, watch the inspiring story of Ally and her family. We are motivated by her courage, her strength and her determination in finding a treatment for ARSACS.

Thank you if you have completed already the PROSPAX survey #2.

We still need a greater representation of people with ARSACS for the research. Therefore, the deadline has been extended to Sunday March 6. Please take few minutes to provide your insight so people with ARSACS are well represented in the survey. English survey.

The survey is also available in several languages. Links

Thank you for your collaboration.

Brief summary of the results of Dr. Maltecca’s research project “Targeting deregulated calcium homeostasis as potential therapeutic option for ARSACS“. The results indicate that targeting calcium may represent a therapeutic option for ARSACS.

Make your voice heard. Let researchers know what is important to you and how you feel living with the condition.
You do not need to have completed the first survey to fill out this survey.  A parent of a child can fill out the survey. PROSPAX is a 3 year international project  focusing on ARSACS and SPG7. Click on button below to participate.

All together we can advance ARSACS research. Thank you for your participation.

PROSPAX Phase 2 Survey

If you are interested in joining the team of researchers around the world to advance the understanding of ARSACS and lead to a treatment, please send us your proposal. For details : Financing Offer and ARSACS Appendix.

Deadline : May 27, 2022.

ARSACS research conducted by Dr. Federico Herrera and his team in Portugal,“Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments” , published in the Cells Journal on January 16, 2022.

ARSACS research project, led by Drs. Mckinney ,Watt and Toscano- Marquez, was featured on CBC radio “Let’s Go” on 2022-01-20. As part of the “Understanding the Brain” segment, Rackeb Tesfaye, science columnist at CBC radio and a PHD candidate in neurosciences, provided an overview of ARSACS history and explained the latest discovery made by the McGill research team. “Let Go”

  ” To all of you : Mr. Marc Bédard, Honorary President, sponsors, partners, donors and volunteers, it is thanks to you that the Foundation can pursue it’s mission. Thank you! ” Jean Groleau , president of the Ataxia Charlevoix-Saguenay Foundation. The Diner des Producteurs, a major fundraising event for the Foundation, was held in Montreal on December 6, 2021.

Latest news release from McGill University, Montreal- Researchers at McGill University, lead by Drs. Alanna Watt and Anne Mckinney, have made an important step forward in understanding the cause of ARSACS. “We have shown really clearly that zebrin-negative cells in the posterior vermis were not degenerating,” Watt says. “We did not expect that. We thought eventually zebrin-negative cells in all parts of the vermis would succumb, but it’s just not what we see.” Welcome news for families affected by ARSACS. Research published in Frontiers in Cellular Neuroscience.

The Ataxia Charlevoix-Saguenay Foundation is pleased to announce that Dr. Massimo Pandolfo has joined its board of directors. Dr. Pandolfo is Professor of Neurology at McGill University in Montreal since January 2021. Prior, he was Professor of neurology and Director of the Laboratory of Experimental Neurology at the Université Libre de Bruxelles in Belgium.

“Our Board is fortunate to benefit from Dr. Pandolfo’s vast experience on ataxias. His expertise in clinical and genetic study of several rare neurological diseases will be very helpful to pursue our mission” said Jean Groleau, president of the Foundation.

Research of Drs. Nethisinghe and Giunti, “Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS“, was published in the International Journal of Molecular Sciences in October 2021. This research was made possible thanks to the Foundation in collaboration with the University College London Hospitals.

Me Jean Groleau, co-founder and president of the Fondation de l’Ataxie Charlevoix-Saguenay, is proud to join Catalis to represent the needs and challenges of people with rare diseases. Launched in 2017, CATALIS’ mandate is, among other things, to facilitate collaboration between the various actors and to accelerate the development of innovative treatments.

The Foundation’s fundraising campaign is underway until the end of December. We need your support to pursue our mission to finance ARSACS research. Together we can work toward the goal of making lives better for individuals affected by ARSACS. Research needs money. Therefore, every donation counts. Please donate . Thank you for your generosity.

The Organizzazione di volontariato (ODV) is offering a seed grant of 50 000€ to finance research on ARSACS in partnership with the Fondazione Telethon . This opportunity is for researchers in Italy. However, a project involving  an international  collaboration  would be eligible also.

ODV,  a volunteer organisation founded by Susanna Deluca and Dr. Paolo  Arrigoni, a member of the Foundation’s Board, is dedicated to the ARSACS cause. FondazioneTelethon is an Italian non-profit organisation which finances scientific research projects on rare diseases.  Application by December 15, 2021.  More details.

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.

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.

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. Reserve now.