News

$940,000 for ARSACS research in 2022-2023!

$940,000 for ARSACS research in 2022-2023!

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 !

Thank you !

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.

PROSPAX and TREAT-ARCA Meeting in July 2022

PROSPAX and TREAT-ARCA Meeting in July 2022

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. Babu’s ARSACS article published

Dr. Babu’s ARSACS article published

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.

ARSACS around the word

ARSACS around the word

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.

Dr. Houry’s research report

Dr. Houry’s research report

“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.

TREAT- ARCA Research Project

TREAT- ARCA Research Project

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.

Watch Ally’s inspiring story

Watch Ally’s inspiring story

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.

PROSPAX Survey – Deadline extended to March 6

PROSPAX Survey – Deadline extended to March 6

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.

PROSPAX Phase 2  Survey

PROSPAX Phase 2 Survey

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

ARSACS research featured on CBC Radio

ARSACS research featured on CBC Radio

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”

$1.250M net raised for ARSACS research  at the Diner des Producteurs

$1.250M net raised for ARSACS research at the Diner des Producteurs

  ” 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.

McGill ARSACS researchers team made a surprising discovery: not all zebrin-negative cells behave the same

McGill ARSACS researchers team made a surprising discovery: not all zebrin-negative cells behave the same

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.

Dr. Pandolfo joins the Foundation’s Board

Dr. Pandolfo joins the Foundation’s Board

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.

Me Jean Groleau named Vice-President of Catalis Board of Directors

Me Jean Groleau named Vice-President of Catalis Board of Directors

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 needs your support

The Foundation needs your support

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.

Great opportunity to do ARSACS  research in Italy

Great opportunity to do ARSACS research in Italy

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.

$735,000  allocated to 9 ARSACS research projects in 2021-2022

$735,000 allocated to 9 ARSACS research projects in 2021-2022

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.

Dr. Maltecca’s ARSACS research paper published in Neurology

Dr. Maltecca’s ARSACS research paper published in Neurology

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 ARSACS International  Symposium

Invitation to the ARSACS International Symposium

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 .

Radio station 92.5 ckaj is part of the efforts – Donation of $35,000. Thank you!

Radio station 92.5 ckaj is part of the efforts – Donation of $35,000. Thank you!

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.

Welcome to the new site!

Welcome to the new site!

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.

Interview with Sonia Gobeil, cofounder of the ARSACS Foundation

Interview with Sonia Gobeil, cofounder of the ARSACS Foundation

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.

ARSACS research results presented at the 31st International Symposium on ALS/MND

ARSACS research results presented at the 31st International Symposium on ALS/MND

Dr. Gentil and Dr. Durham presented the results of their team’s ARSACS research at the 31st International Symposium on ALS/MND. The research, funded by the Foundation, was the work of Afrooz Dabbaghizadeh and Alexandre Paré.
31st International Symposium on ALS/MND- Theme 03 – In-vitro Experimental Models
Abstract 1 : Effects of sacsin domains, a protein mutated in a neurodegenerative disorder, on neurofilament assembly.
Abstract 2 : Role of chaperone and acetylation levels and therapeutic potential of HDAC inhibitors for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Thank you to all our Volunteers. Your involvement is essential to the Foundation and the advancement of science. Ataxia Charlevoix-Saguenay Foundation

Krogan Lab from UCSF to conduct ARSACS research

Krogan Lab from UCSF to conduct ARSACS research

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.

Join us   #tuesdaytakeoverday – March 30th

Join us #tuesdaytakeoverday – March 30th

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.

A new member on the Board of Directors – Mrs. Betsy Trainor

A new member on the Board of Directors – Mrs. Betsy Trainor

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.

You are not alone …. ARSACS patients all around the world

You are not alone …. ARSACS patients all around the world

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

ARSACS article published in IScience

ARSACS article published in IScience

IScience has published an Article on ARSACS in February 2021. Dr. Mohan Babu, supported by the ARSACS Foundation, is one of the researchers who contributed to the research.

The Foundation, a partner in a project funded as part of the European Joint Program Rare Diseases

The Foundation, a partner in a project funded as part of the European Joint Program Rare Diseases

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.

ARSACS case in Iran

ARSACS case in Iran

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 cas ARSACS en Inde

Un cas ARSACS en Inde

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).