Research

Strategy

Ataxia Charlevoix-Saguenay Foundation

In 2006, the Foundation was created and funded the first research to be undertaken since the identification of the Ataxia gene in 2000. It was crucial to begin research in order to discover a treatment for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).

Since its creation, the Foundation has funded several research projects related to this neurological disorder. The Foundation is a charitable organization with no employees and is supported entirely by private donations and volunteers who support the cause. The total administration costs are less than 2% of the funds raised which allow almost all the funds to be totally dedicated to research.

Research Objectives

The main research objective of the Ataxia Charlevoix-Saguenay Foundation is to develop a treatment for ARSACS. Every year the Foundation financed several research projects  in Canada and abroad. The efforts of the Foundation are concentrated currently in three main research areas:

  • Financing of several promissing research projects with reearchers that are experts in this field.
  • Conducting  clinical trials
  • Forming partnerships with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.

Research Grants

To further encourage and accelerate the development of a treatment for ARSACS, the Foundation provides grants and opportunities to researchers.The research grant could be as high as $100,000 for a 12 month period and could be renewed for a second year. It should be noted that the grant funding from the Foundation  cannot be used to cover indirect costs. See Financing Offer , and   ARSACS Appendix

Scientific Advisory Board 

All applications for research grants are evaluated by the Scientific Advisory Board of the Ataxia of Charlevoix-Saguenay Foundation according to specific criteria. 

Current ARSACS Research Projects for 2020-2021

Is ARSACS a Tauopathy?- Dr. Paul Chapple

Currently we are looking carefully at sacsin’s interaction with cytoskeletal proteins and defining the molecular mechanisms by which sacsin’s loss disrupts cytoskeletal function. This includes research examining a link between cytoskeletal disruption, caused by loss...

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Partnerships

The Ataxia Charlevoix-Saguenay Foundation is always looking for opportunities to work in partnership with other organizations and pharmaceutical companies to further the understanding of this disease and conduct independent research.

PROSPAX Project

The Ataxia Charlevoix-Saguenay Foundation is one of the 3 patient advocacy organisations participating in the PROgression chart of SPAstic ataXias (PROSPAX) research project. PROPSPAX, a 3 year project launched in September 2020, is a novel collaborative effort between several neurologists across Canada and Europe. 
It is an unique opportunity for patients to have their voice heard by researchers, to make sure that the questions they are trying to answer are the ones that are important to a person living with the condition. The PROSPAX project will focus on two conditions – ARSACS and SPG7.

 

TREAT-ARCA Project

The Foundation is pleased to represent  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 European Joint Program Rare Disease. 

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.

Critical Path to Therapeutics for the Ataxias  consortium project

The Foundation is a member of the Critical Path to Therapeutics for the Ataxias (CPTA) consortium as a patient advocacy group.

The consortium, launched in February 2021, is a public-private partnership focused on optimizing clinical trials for inherited ataxias. It involves the participation of government regulatory and  research agencies, academia, patient organizations, and bio-pharmaceutical companies.​

C-Path is an independent nonprofit organization created to improve the drug development process.

Preclinical and Clinical Trials

The Foundation is ready to conduct preclinical and clinical trials. It has the expertise and the tools available. Furthermore, the existing International ARSACS Patient Registry is a good source of potential patients interested in participating in such a trial.

Research tools available

Sacs Knock Out mouse (# 033221)

Sacs Knock In R272C mouse (# 033385)

Two iPS cell lines are available for research, 1 female and 1male. These cells are derived from samples taken from people diagnosed with ARSACS (both are homozygous c.8844delT). They have been  generated by the Sendai virus method.

 

CONFERENCES 

2021 Neuroscience annual meeting, Sept 28-30, 2021

The Critical Path Institute 2021 Neuroscience annual meeting will be held on September 28-30, 2021 in Washington, DC. A representative of the Foundation will be attending as a member of the Critical Path to Therapeutics for the Ataxias (CPTA) consortium. 

International ARSACS Symposium Nov 4, 2021

The  6th International ARSACS Symposium will be held on November 4,2021 for the latest research updates on ARSACS or related topics to ARSACS. The keynote speaker will be Dr. Jeremy Schmahmann from the Massachusetts General Hospital. Half-day virtual conferences, free registration, opened to all. Register now. 

Joint conference Symposium ARSACS and SRCA, May 18-19, 2023

Unique opportunity: ARSACS Symposium  and the Society for Research on the Cerebellum and Ataxias (SRCA)  for a joint confeence to be held in Quebec city on May 18-19, 2023. Details to come.

Publications on ARSACS

October 16, 2021 -"Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis”
September 9, 2021 -"The ataxia protein sacsin is required for integrin trafficking and synaptic organization"
February, 2021 -"Ciliary Ganglioplegic Migraine Associated with SACS Mutation"

“Ciliary Ganglioplegic Migraine Associated with SACS Mutation”  article published by researchers from Republic of Korea  in Journal of Ophtalmology and Visual Sciences 

February 19, 2021 -"From fuziness to precision medicine : on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease"
December 23, 2020 - "Docosahexaenoic acid in ARSACS: observations in 2 patients"

 “Docosahexaenoic acid in ARSACS: observations in 2 patients” published in BMC Neurology. The article does not necessarily reflect the views and positions of the Foundation. It engages solely the author.

December 22, 2020 - "Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spatic Ataxia of Charlevoix-Saguenay""

ARSACS_in_Iran_case_report article published in Frontiers in Genetics. 

December 17, 2020 - "The importance of balancing Sacsin protein levels in ARSACS"
October 13, 2020 - An excellent source of information on ARSACS published in the GeneReviews

An excellent source of information on ARSACS published in the GeneReviews. GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. 

February 14, 2020 - "A new measuring stick for ARSACS"

“A new measuring stick for ARSACS” by Dr. Cynthia Gagnon  published in the SCA Source.

October 23, 2018 - “Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics”

Sacsin, mutated in ataxia ARSACS, regulates intermediate filament assembly and dynamics” by Dr. Benoit Gentil published in the Federation of American Societies for Experimental Biology Journal (FASEBJ).

September 19, 2018 - "From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay"
August 29, 2018 - "An exploratory natural history of ataxia of Charlevoix-Saguenay"

An exploratory natural history of ataxia of Charlevoix-Saguenay“, Dr Cynthia Gagnon, American Academy of Neurology.

June 21, 2018 - "Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS"

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS“, Dr Anne McKinney and Dr Alanna Watt, The Journal of Physiology.

May 29, 2017 - A research paper looking at the cytoskeleton in cells cultured from ARSACS patients

 research paper  by Dr. Paul Chapple published in the Human Molecular Genetics journal looking at the cytoskeleton in cells cultured from ARSACS patients. 

List of publications from 1979 to January 19, 2019

List of publications on ARSACS from 1979 to January 19,2019