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. 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.
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).
Furthermore, Dr. Matthis Synofzik from University of Tubingen, Germany explains why ARSACS patients’ participation is very important in the development of a treatment.
Research project presentation by Dr. Fabiana Longo who is working with Dr. Maltecca.
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.
Dr. Francesca Maltecca is giving an overview of her research project.
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.