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Invitation to a conference on ARSACS research progress

Invitation to a conference on ARSACS research progress

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.

Interested in doing research on ARSACS ?

Interested in doing research on ARSACS ?

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. Gagnon's research focusing on the progression of ARSACS.

Dr. Gagnon's research focusing on the progression of ARSACS.

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.

Assessment of a treatment based on input from ARSACS patients

Assessment of a treatment based on input from ARSACS patients

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.

Dre Roxanne Larivière, Rébecca Gaudet and Dr Bernard Brais

ARSACS research in Dr. Brais' laboratory

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

Dr. Ramy Malty's presentation

Dr. Ramy Malty's presentation

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.

New articles published on ARSACS

New articles published on ARSACS

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

Dr. Thomas L. Schwarz

"Role of Neurons and defect mitochondria in ARSACS" – Dr. Schwarz 's research project

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 November 7,2019

Save the date November 7,2019

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.

Invitation to ARSACS patients to join in these studies

Invitation to ARSACS patients to join in these studies

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.

Dr. Longo 's presentation

Dr. Longo 's presentation

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

ARSACS patients worldwide

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.

Dr. Gagnon - New pilot project

Dr. Gagnon – New pilot project

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.

Presentation by Dr. Francesca Maltecca

Presentation by Dr. Francesca Maltecca

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

Launch of the International ARSACS Patient Registry

Launch of the International ARSACS Patient Registry

If you or a family member has received an ARSACS diagnostic, you are invited to register. It is easy and simple.
The registry is available in 4 languages English, French Spanish and in Italian. This is a way for you to support the cause.

Our Annual Fundraiser