Activities and events

Following are the major activities or past events in 2018


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.

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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.

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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.

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

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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.

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

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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.

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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.

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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.

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Dr. Longo 's presentation

Research project presentation by Dr. Fabiana Longo who is working with Dr. Maltecca.

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ARSACS patients worldwide

At first, this degenerative disease was associated with a specific region Charlevoix-Saguenay. More and more, ARSACS is found in many different ethnic groups in the world. Article published in Research Gate Publication.

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Dr. Cynthia Gagnon will undertake a pilot project entitled “Un meilleur contrôle du tronc et des membres inférieurs pour une meilleure mobilité: Évaluation d’un programme de réentraînement pour les personnes atteintes de l’ARSACS”. This pilot project aims to document the effects of a retraining program to increase the motor control of the trunk and lower limbs.

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Dr. Francesca Maltecca is giving an overview of her research project.

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Dr. Strack from Unversity of Iowa (US) provides a short description of his ARSACS research project.

Congratulations! Dr. Cynthia Gagnon has received the “Researcher of the Year” national award given by Muscular Dystrophy Canada.
Dr. Gagnon is a member of the ARSACS research team. Article published in the Quotidien on Wednesday, November 28, 2018. (Article in French only).

Dr. Brais' ARSACS project

As part of the video serie, Dr. Brais provides an overview of the ARSACS research projects.

The music was “Whisps of Whorles” by Kevin MacLeod (
Licensed under Creative Commons: By Attribution 3.0 License

Camera and Edit by Anthony Revoy of Neuro Media Services

ARSACS project at CHEO

“Screening of the Pfizer Chemo-Genetics 3000 compound library for ARSACS” – a new research project to be undertaken shortly at the Children’s Hospital of Eastern Ontario in Ottawa. Stay tuned!

In an effort to make research easier to understand, the ARSACS researchers have produced a serie of short videos describing their respective project. The first one is a presentation by Dr.Ghering.

The Structural Genomics Consortium in Frankfurt will be sending shortly some molecules to the Institute for Research in Immunology and Cancer of the University of Montreal. These molecules will be tested on ARSACS.

Dr. Salver Erceg, in Valencia (Spain), explains in a short video how he is using stem cell therapies to investigate in vitro the affected cells in ARSACS patients. This research project is funded by the Foundation.

Thanks to your generosity, the Foundation can continue to fund research on ARSACS with the aim of developing a treatment for this rare disease. Special thanks to the co-chairs Mrs. Erin Slater Battat and Mr.Joe Battat, chefs, sponsors,donors and all the volunteers. This would not have been possible without you.

About 50 world expert researchers on ARSACS shared their data and knowledge at the International ARSACS Symposium hosted by the Neuro in Montreal.
Dr. Brais, Neuro’s leading expert on ARSACS, describes why this is an important conference.

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The study “Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” has been published on October 23,2018 in the Federation of American Societies for Experimental Biology Journal (FASEBJ).“For the time being, this is a very interesting study that needs to be recognized by broad audience in life sciences and medicine” according to Dr. Robert Goldman an expert in the field of intermediate filaments and to the reviewers who have recognized the importance of publishing the data. This journal has a good reputation and a wide range of readership which should increase the awareness of ARSACS research.

In summary, the loss of Sacsin in the ataxia ARSACS leads to disorganization of the neurofilament network. This study identified direct roles of Sacsin domains in regulating intermediate filament assembly and dynamics, implicating Sacsin as an essential factor in maintaining cytoarchitecture.

The 5th ARSACS Symposium is very soon. AGENDA for the 2 days.
The public is invented to meet the ARSACS researchers on Wednesday October 31 at 4:30. Come and join us!

“From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay” a study which evaluates the motor performance of individuals with ARSACS, was published in the Orphanet Journal of Rare Diseases on September 19, 2018. Drs.Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté and Jean Mathieu participated in the study.

The 5th International Symposium on ARSACS will be held in Montreal on October 31st. The agenda will be posted on the website over the next few days.

For the first time, the public is invited to attend. The guest speakers at the Symposium will present their research in a “capsule” format from 8:30 to 9:30. Come meet our researchers, it’s free. Otherwise, you will be able to see the “capsules” on the website.

Dr. Cynthia Gagnon and her team studied the decline of upper and lower limb functions in adults with ARSACS over a 2 year period. The study has been published in the Neurology Journal in August 2018.

The research article of Dr. Anne McKinney and Dr. Alanna Watt entitled “Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS” has been published in the latest issue of the Journal of Physiology. See article

“Become an advocate, become involved, share advice, tell your story so that other parents with children with neurodegenerative disorders can learn from it. Above all, do not ever give up hope”. Interview with Mrs Brandi Brown, mother of a daughter with ARSACS.

The Foundation will fund Dr. Brais’ second research project for an amount of $80,000 in 2018-2019.
The aims of the project “Integrated Validation Pipeline for Candidate Drugs for ARSACS” are to validate candidate compounds in neurons and to combine genomics and proteomics strategies to pinpoint pathways affected by candidate drugs.

You live outside Canada and you wish to support research on ARSACS but you do not know how? It is easy. Just send by mail a cheque in your local currency to the Ataxia Charlevoix-Saguenay Foundation, 1000 Sherbrooke O, bureau 2100, Montreal QC H3A 3G4. Thank you for your support.

The Foundation site is now connected to social media. Follow us and share the news with your friends & followers via Twitter or Facebook.

16 researchers will share close to $1M in funding this year to pursue research on ARSACS. A total of 12 research projects have been selected by the Foundation for 2018-2019 with the goal of finding a treatment for ARSACS. The Foundation would like to thank all the researchers for their application and congratulations to the selected researchers. Description of the projects.

Good news! The ARSACS research project “A comprehensive study of the natural history of ARSACS: An essential step towards clinical trial readiness and evidence-based interventions​”. was selected by the Canadian Institutes of Health Research (CIHR)and gets funding for a total of $569,925 over a 4 year period. Congratulations to Dr. Cynthia Gagnon and the research team!

First in-depth study on the characteristics of speech and swallowing in ARSACS, highlighting the impact of these deficits for ARSACS. This research is conducted by Dr. Vogel and Dr. Synofzik from the Centre for Neurology and Hertie-Institute for Clinical Brain Research in Tübingen. This is the first part of the overall research project funded by the Foundation. The second part of the project will address the possible treatment(s).

Fifth International Symposium on ARSACS on October 31-November 1,2018 in Montreal.
Special Invitation from Dr. Brais. Website Registration by October 1st.

“By officially grouping all ARSACS patients by age, sex, and especially geographic location, the foundation believes that large companies like Pfizer or Bayer will be more inclined to test new drugs.” . Article by Pierre-Alexandre Maltais, Journal de Québec ( French version only).

The IRIC HTS platform completed a screen of 16 000 molecules on a cell line engineered by Dr Brais’ team showing the characteristic vimentin bundling of ARSACS. This led to the identification of a set of potential candidate compounds, of which the two most promising lead to an almost complete disappearance of the bundling without signs of cellular toxicity. Medicinal chemistry efforts are presently focused on designing new molecules based on the identified active chemotype to improve the desired properties to be tested in a pre-clinical using the already existing transgenic mouse model to demonstrate efficacy. In parallel, Dr Brais’ team developed native assays to translate the molecules’ activity into more physiological systems which will shed light on the biology mechanisms of the disease and how the candidate drugs work.

The Ataxia Charlevoix-Saguenay cordially invites you to “Le Diner des Producteurs” on November 1, 2018.
Reserve you table now .

Many thanks to the Club Richelieu for supporting the ARSACS research. On behalf of the Foundation, Mrs Nicole Fortin, a mother of a child affected by ARSACS and a volunteer at the Foundation, accepted a cheque of $1000 presented by Mr. Jean-François Dallaire, president of the Club Richelieu in Alma.

After serious reflection, the ARSACS Foundation is of the view that there is a need for an overall ARSACS patient registry. Such registry will be on an international basis and will include individuals diagnosed with ARSACS regardless of their country of residence. In addition to being an an essential tool to researchers, a patient registry will provide an idea of the market size which the Foundation believes is a crucial element when discussing drug development possibilities with pharmaceutical companies.

If you or a family member are affected with ARSACS, you will be invited to register. Your registration will contribute to the development of treatments for the disorder. Stay tuned for further details.

The Foundation is pleased to announce that Dr. Paolo Arrigoni has joined the Foundation’s Board of Directors. With his experience, Dr. Arrigoni will bring an European perspective at the Board.

A new research has shown that a cheap non-invasive test could be used to diagnose ARSACS according to an article published recently in the Brain journal of neurology. See press release from UCL Faculty of Brain Sciences (London) and the complete research article .

To people with ARSACS, do not to get discouraged, believe in yourself, go ahead even if it takes longer, anything is possible. It is often the mind the first barrier. In addition, I would tell parents to develop their children’autonomy as much as possible with their limitations. It will help them later”.
Letter from Jean François Collard.

The “2017 Diner des Producteurs “event gets media coverage in the February issue of the Montreal Centre Ville magazine. Article

If you are a researcher interested in ARSACS, the Ataxia of Charlevoix-Saguenay Foundation provides you with a great funding opportunity. Grant application must be received at the latest by May 25, 2018. Application form

Do not miss the great Diner des Producteurs, the Foundation’s annual major fundraising event. Save the date : November 1,2018. Details to come.

The screening of new molecules at the end of 2017 made it possible to identify other candidate molecules. The list goes on! Already a team from IRIC is investigating whether molecules can get to the brain. The teams of Dr. Brais, Dr. Watts and Dr. McKinney of McGill University are advancing in their validation of molecules on other models. Dr. Schwarz’s team at Harvard is also involved in the validation process.

Edith Savard devotes herself to her passion: painting. She does it even though she has ARSACS. Discover this positive person and her art. Interview done by Sonia Gobeil in January 2018.

The Foundation is very pleased to announce that Mrs. Julie E. Duchesne has joined its Board of Directors. Mrs. Duchesne, actuary, FSA, FCIA, Partner, has some 20 years of experience in the field of benefits consulting and team leadership. She is currently Health Business leader for Canada in group insurance practice at Mercer. She has also served on the board of CIFAR (Canadian Pension and Benefits Institute).

The study has developed an algorithm to facilitate and improve the diagnosis of recessive ataxias, including ARSACS. Dr. Gagnon’s research team and Dr. Brais provided data on the functional abilities of people with ARSACS. This was made possible thanks to the support of the Foundation via Emerging team, the data from the first phase of this important project. It should be noted that this prestigious medical journal lists only a limited number of people among the authors. As a result, the names Dr. Gagnon and Dr. Brais are included in the RADIAL Working Group. “A Recessive Ataxia Diagnosis Algorithm for the Next Generation Sequencing Era”

Congratulations Sarah and thank you to all the donors for their contribution to the cause.
Sarah Blackburn’s initiative raised $3,400 for ARSACS by creating awareness among her community for the need to support ARSACS research.

The Italian Ministry of Health will fund the project Insight into new therapeutic preclinical strategies in Autosomal Recessive Spastic
Ataxia of Charlevoix-Saguenay type
presented by Gianni Ciofani, Smart Bio-Interfaces, Istituto Italiano di Tecnologia (IIT), Pontedera (PI)
Francesca Maltecca, Neurogenomics Unit, Ospedale San Raffaele, Milan, Italy and Filippo M. Santorelli, Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa. Congratulations!
Summary of the research project.

Caroline, the mother of  a young girl with ARSACS, has decided to help ARSACS research by cooking and selling her products at school.  Her initiative raised $800.  Congratulations and thank you, Caroline, for your efforts.