Activities and events

Following are the major activities or past events in 2019


On the occasion of World Ataxia Day on  September 25, the ARSACS Organizzatione Di VoLontariato (ARSACS ODV) launched a fundraising campaign in Europe to help finance ARSACS research projects.   The organisation of volunteers, created in December 2018 in Milan, works very closely with the Foundation. Thank you for your support.

The Ataxia Charlevoix-Saguenay Foundation has received several innovative research proposals again this year. The Foundation would like to thank the applicants for their interest in the Ataxia Charlevoix-Saguenay and for the high quality of their submissions.

8 major projects will be funded for 2019-2020 with the goal of developing a treatment for the Ataxia Charlevoix-Saguenay.

Both ARSACS transgenic mouse models, the Sacs Knock Out mouse (# 033221) and the Sacs Knock In R272C mouse (# 033385), are now available for sell on the Jackson Laboratory website

Thanks to the financial support of the Ataxia Charlevoix-Saguenay Foundation, the mice generated and characterized by the ARSACS researcher team demonstrate similarities to the disease found in humans (Larivière et al., 2015 and Larivière et al., 2019).

For any questions, please contact the Ataxia Charlevoix-Saguenay Foundation at the following email address:

Over the years, a greater collaboration has developed among ARSACS researchers. See a representation of the network of collaboration produced by Mathieu Blais.

The Ataxia Charlevoix-Saguenay Foundation cordially invites you to its annual fundraising Le Diner des Producteurs (13th edition)
under the honorary presidency of Mr. Jacques Foisy, Chairman of the Board and Managing Partner, Novacap. Invitation.

On June 11th, thanks to Manon Valiquette, Sonia Gobeil representing the Foundation had the pleasure of visiting the Institute for Research in Immunology and Cancer (IRCI) in Montreal and discovering extraordinary people who are very passionate about their work. Their ARSACS project consists in optimizing active molecules aimed at producing a reversal of the ARSACS phenotype in an In Vivo model. Thank you very much for your time. For more information.

The acronym “ARSACS” enters the life of Susanna de Luca and Paolo Arrigoni when their young child was diagnosed with ARSACS. Paolo joined the Board of Directors of the Ataxia Charlevoix-Saguenay Foundation in 2018 and, after having participated in the international symposium on ARSACS in Montreal, concluded that a point of reference and support was necessary in Europe, especially since several cases have been identified.

In December 2018, these parents created the ARSACS  Organizzazione Di Volontariato (ARSACS ODV) based in Milan, Italy. Like the Ataxia Charlevoix-Saguenay Foundation, it is an organisation of volunteers, with a legal status, working in close collaboration with the Foundation. ARSACS ODV wishes to increase the awareness of ARSACS in Europe, to be a point of reference and support and to help finance the research projects via the Foundation.

Dr. Brais will be presenting “New insights on ARSACS lead to a search for candidate compounds at the 6th International Meeting on Spastic Paraparesis and Ataxia on September 20-21 2019 in Nice, France. The program includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias)

If you are interested in doing research on ARSACS, please  send us your proposal by  Friday May 24,2019. A maximum of $100,000 for a period of one year with possibility of renewal for a second year
Application and Appendix

On April 25th in Quebec City, Sonia Gobeil had the pleasure of meeting Dr. Esther Becker (Oxford University) and attending her conference on the cerebellum entitled “New Insights into Cerebellar Disorders”. Summary.

Dr. Cynthia Gagnon will be presenting on the Natural History, Biomarkers and Endpoints for ARSACS at the November 2019 International Ataxia Research Conference in Washington, DC

“Speech treatment improves dysarthria in multisystemic ataxia:
a raterblinded, controlled pilot-study in ARSACS” research study done by Dr. Synofzik and his research team to be published in the Journal of Neurology. To learn more about the study, interested readers can contact Dr. Matthis Synofzik directly. See Abstract

Article will be published in the Journal of the Neurological Sciences in May, 2019. The study concludes that adults with ARSACS may experience many other clinical manifestations than the most commonly described.   See Article.

EMG data of 6 muscles from 35 ARSACS patients were obtained as part of Dr. Luc J. Hébert’s ARSACS research project. The analysis of these EMG data will help to better understand the problem of spasticity in ARSACS patients and could eventually open the door to new interventions targeted more on these neuro- locomotive deficiences.

The University of North Carolina (UNC) Catalyst for Rare Diseases, funded in 2016, was established as a precompetitive open research group with a mission to understand the functional phenotic manifestations of genetic mutations. This article describes the initial experiences and learning from the UNC Catalyst for Rare diseases.

Opportunity to meet Dr. Esther Becker from University of Oxford guest speaker at the NeuroForum 2019 conference and find out the «New insights into cerebellar disorders».
The conference, organised by the Axe NeuroSciences, Centre de Recherche du CHU de Québec, will be held on Thursday 25,2019 at 11:00am at the LOEX site HEJ (Local R-138) and projected at the Amphithéâtre Fisher (Local TR-54) site CHUL.
Come and join us!

Dr. Alanna Watt talks about her lab’s research in understanding the cerebellum and the cellular changes that contribute to ARSACS in order to develop therapeutics. Presentation.

The research of Dr. Roxanne Larivière and her team supports that Sacs missense mutation largely leads to loss of Sacsin fucntion. SacsR272C missense homozygous mice develop an ataxia phenotype published in the Molecular Brain.

The next meeting of the Board of the Ataxia Charlevoix-Saguenay Foundation will be held in Montreal on Wednesday June 5,2019.

Dr. Chapple from Queen Mary University of London provides an overview of his ARSACS research.

In addition to evaluating a post-symptomatic treatment on Sacs mice with an identified drug, Dr. Maltecca is also conducting a pre-symptomatic treatment to evaluate if such a drug can stop the neurodegeneration associated with ARSACS. Such results will be available at the end of this summer. Her work is also aimed at understanding how the drug could offer neuroprotection in ARSACS.

Dr. Anne McKinney from McGill University describes her ARSACS research project focusing on how the cells of ARSACS patients communicate together and how some drugs could have an impact on the cells.

Dr. Slaven Erceg’s article “Investigating ARSACS: models for understanding cerebellar degeneration” has been published in the Neuropathology and Applied Neurobiology journal last January. Dr. Erceg is at the Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center “Principe Felipe”, Valencia, Spain.

Dre Cynthia Gagnon presents some preventive interventions and pratical tips that could be helpful if you are affected by ARSACS. This is a general overview and you should discuss with your neurologist or medical team to ensure that some of the recommendations are applicable to you.

As part of the video serie of ARSACS research projects, Dr. Suran Nethsisinghe from UCL Queen Square Institute of Neurology in London provides a short overview of his research project using skin cells.

You are invited to a conference on ARSACS research done in the Saguenay/Lac St-Jean region. The conference will take place on February 28, coincident with the International Rare Disease Day, at the salle polyvalente of the library in Jonquière, Quebec. Dr. Cynthia Gagnon will present the results of the research and their potential contributions for future therapeutic trials. You are all welcome: whether you are a person with ARSACS, a loved one, a clinician or someone interested in the subject. It’s free. Invitation.

The conference will be posted on the Foundation’s website at a later date.

To learn more about the projects of the Interdisciplinary Research Group on Neuromuscular Diseases, visit their Facebook page.

This is a special invitation to submit your research proposal. Each year, the Foundation offers annual research fellowships that will advance the understanding of the disease and lead to a treatment. A maximum of $100,000 for a period of one year with possibility of renewal for a second year. An application for a specific project could include several labs in Canada or elsewhere. In such a case, the $100,000 limit would not apply.
Deadline to send your proposal: Friday May 24,2019.
Application and Appendix

Dr. Cynthia Gagnon’s research project is focusing on the progression of the disease which is a key asset when planning a clinical trial. As well, her team is defining the best ways to assess ARSACS impairments and developing clinical practice guidelines for physicians and health professionals. Project overview.

When new treatments are tested, it is important for researchers to have some measurement tools to evaluate their effects according to the perception of the patients affected. Among these tools, there are questionnaires that measure the impact of treatment according to the input of the patients.
Ms. Marjolaine Tremblay is currently developing such a questionnaire. Ms. Tremblay’s project is funded by the PREPARE initiative of which the Charlevoix-Saguenay Ataxia Foundation is a financial partner. Read more.

Dr. Brais provides a description of the ARSACS research conducted in his laboratory and the important collaboration between all the ARSACS researchers.

As part of the series of ARSACS research project presentations, Dr. Ramy Malty who is working with Dr. Mohan Babu from the University of Regina provides a description of their project and the use of a genome wide screening method for genetic interactions.

Some new articles have been published recently on ARSACS. See latest updated list of publications.

Dr. Thomas Schwarz from the Boston Children’ Hospital and Harvard Medical School is describing in a short video the role of neurons and defect mitochondria in ARSACS.

Save the date Thursday November 7, 2019 for the Diner des Producteurs.
A major fundraising event in order to continue ARSACS research and to develop a treatment.

An international network of ARSACS centers is conducting a multi-center study to collect natural history data and biomarkers, essential data to initiate treatment for ARSACS. We encourage you in joining in these studies and thus supporting the preparation of future treatment trials.

As an ARSACS patient, all you need to do is an outpatient visit at one of the participating centers for a a blood test (Study #1 ) and MRI and blood sampling in the case of the more advanced study (Study #2 conducted only in centers in Quebec and Germany).

Study #1 “Participate in an International Natural History and Biomarker Study”

Study # 2 ” Finding specific imaging and fluid biomarkers for future ARSACS treatment trials”

Furthermore, Dr. Matthis Synofzik from University of Tubingen, Germany explains why ARSACS patients’ participation is very important in the development of a treatment.