News

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.

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.

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 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 .

“There is a tremendous amount of data that we have made publicly available, that we hope will be of great use to the community” Justin Wolter, ARSACS research team . “The ataxia protein sacsin is required for integrin trafficking and synaptic organization”

On August 16, 2021, Mrs Kilolo Kijakazi, acting commissioner of the  United States Social Security Administration, announced that the Compassionate Allowances Program will be expanded to included ARSACS. This applies to American citizens only. Press release.

Sonia Gobeil, parent of 2 children with ARSACS and co-founder of the Foundation, shares her experience and hopes in an interview with Maxine Derksen, Hope for Ataxia – Raising Ataxia Awareness Globally

Mr. Robert Banford, General Manager of the 92.5 ckaj station in Saguenay, made an important donation of $35,000 to the Foundation to continue research and to support Mr. Nicolas Claveau in his fundraising initiatives ands sporting achievements in particular that of crossing Canada in a wheelchair to create awareness of the disease.

From left to right: Ms. Sonia Gobeil, co-founder of the Foundation, Mr. Robert Banford, Executive Director of 92.5, Mr. Nicolas Claveau, volunteer and sportsman and Ms. Claudine Tremblay of station 92.5.

“Ciliary Ganglioplegic Migraine Associated with SACS Mutation” case report published in February 2021 in the Journal of Ophthalmology and Visual Sciences.

Invitation to visit the new site. We hope that it will be easier to navigate where you need to go and will provide the information that you are looking for.

ARSACS community is now part of the RareConnect network. RareConnect is the online network of rare disease communities that brings together patients, families and groups. Through RareConnect, patients can communicate, share experiences and information in several languages.

From Charlevoix to the World… Invitation to all to the 6th International ARSACS Symposium on Thursday, November 4th, 2021. Keynote speaker Dr. Jeremy Schmahmann from the Massachusetts General Hospital. Half-day virtual conferences, free registration. Register now.

Interview with Sonia Gobeil providing insights on the creation of the Foundation, engagement of research partners, the importance of the patient registry and support groups. Interview was done by Jenny Krahn, University of Calgary for the 2021 Canadian Society for Molecular Biosciences conference to be held June 14-17,2021.

Dr. Francesca Maltecca has submitted a paper for publication entitled “Sacsin cotranslational degradation explains lack of genotype-phenotype correlation in autosomal recessive spastic ataxia of Charlevoix-Saguenay“, a project that was co-financed by the foundation few years ago.

The Foundation is funding an additional research project: “Discovery of new targets for therapeutic interventions in ARSACS disease” with Dr. Nevan Krogan, University of California San Francisco (UCSF). The one year project is funded in partnership with the UCSF Foundation, Krogan Lab in Honor of Allison Trainor. “To rapidly identify new protein targets for therapeutic interventions for ARSACS disease, we will apply unbiased mass spectrometry-based proteomics and innovative computational approaches to globally uncover the cellular signaling pathways and kinases affected by deletion of the SACS”. Read more.

Action for Ally will takeover Rare Revolution Magazine’s social media to create awareness about ARSACS and find a treatment. See you on #tuesdaytakeoverday, March 30th.

The Ataxia Charlevoix-Saguenay Foundation is very pleased to announce that Mrs. Betsy Trainor has joined its Board of Directors. Mrs Trainor is a corporate attorney working for Fibertek, a high-tech company in the U.S. Furthermore, she is an author who has published several children’ books. She lives outside Washington D.C. With extensive experience in different fields, Mrs. Trainor is a great addition to the Foundation’s team.

Have you ever wondered where ARSACS can be found? Even though associated initially with a region in Quebec, ARSACS can be found around the world. Based on the number of patients registered in the International ARSACS Patient Registry, we have created that cool ARSACS MAP providing interesting statistics. “Historical cohort ” is defined as the number of ARSACS cases that have been reported in the scientific literature. For example for Europe, the registry would be in line with the cohort where for Canada/US the registry would be over represented.

If you are an ARSACS patient and did not have an opportunity to register, we encourage you to do it. It is easy and simple. Visit International ARSACS Patient Registry

In 2020, Ally was diagnosed with ARSACS. Her family has launched Action For Ally Merchandise to raise funds for research. All proceeds will go to support the Krogan Lab at the University of California San Francisco to conduct research of the mutated gene. Please Join the Fight & Change a Life!

The Foundation is pleased to announce that it will be representing the ARSACS patients on the research project “Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias”. The project has received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575. The specific objective is the pre-clinical-research to develop effective therapies for rare diseases. It aims at designing and testing new complementary treatment strategies, including both repurposed and newly identified molecules, as well as gene therapies in two exemplary multisystemic flagship ARCAS: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and COQ8A-ataxia (ARCA2). It is a 3 year project.

Thank you to the donors who celebrated Maryse’s birthday by supporting ARSACS research!

There is still an opportunity to complete the PROSPAX survey. The deadline has been extended to Sunday January 31, 2021. So please take five minutes of your time to have your voice heard and be well represented in the research. Thank you very much if you have already completed the survey. It is very appreciated!

“The importance of balancing Sacsin protein levels in ARSACS” – the article written by Dr. Ambika Tewari and edited by Larissa Nitschke was published in SCA Source.

Individuals affected by ARSACS can be found all around the world. Recently, an ARSACS case had been reported in Iran. Article published by Frontiers in Genetics in December 2020.

Un groupe de chercheurs sous la direction du Dr M Suraj Menon
Département de Neurologie, Government TD Medical College, Alappuzha
en Inde ont évalué un patient atteint de l’ARSACS dans le sud de l’Inde. Voir article (version anglaise seulement).