Research Projects

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

The Scientific Committee has selected the following major projects for the 2019-2020 period with the goal of developing a treatment for the Ataxia Charlevoix-Saguenay.

Thank you also to all our donors for making this research possible.

Targeting deregulated calcium homeostasis as potential therapeutic option for ARSACS -Dr. Francesca Maltecca

The major aims of this project are:

1) to evaluate the functional role of sacsin at the synaptic level, in particular its involvement in the control of calcium fluxes in Purkinje neurons at the postsynaptic space;

2) to strengthen the evidence of efficacy of an off-label drug regulating calcium homeostasis in ARSACS, by conducting a preclinical trial at post- symptomatic stage in Sacs-/- mice with a chronic treatment;

3) to dissect the mechanism by which this drug rescues ataxia and Purkinje cell degeneration in Sacs-/- mice, by evaluating effects on deregulated calcium homeostasis, NF bundling or faulty mitochondrial transport, integrated with multi-omics approaches.

Duration: One year

Funding : $100,000

Contact:

Dr. Francesca Maltecca

Dr. Francesca Maltecca , Ospedale San Raffaele, Milan Italy.

email maltecca.francesca@unisr.it

Is SARM1 a therapeutic target for ARSACS?- Dr. Thomas Schwarz

This project uses the sacsin mutant mouse and mice lacking SARM1 to ask whether the progression of the cell loss in ARSACS can be slowed or prevented by removing SARM1. A positive outcome would make ARSACS a strong candidate for this therapeutic strategy.

Duration : 18 months

Grant: $144,689

Contact:

Dr. Thomas L. Schwarz

Dr. Thomas L. Schwarz, Professor, F.M. Kirby Neurobiology Center Children’s Hospital, Boston and Dept.of Neurobiology
Harvard Medical School CLSB 12-130, 3 Blackfan Street, Boston, MA 02115
Tel:(617)-919-2219 (office) or (617)-919-2264 (lab)

Towards the Structural Determination of Sacsin- Dr. Walid A. Houry

Aim 1. Engineering cells with tagged SACS for purification

Aim 2. Purification and determination of SACS structure

Aim3: To purify and determine the structure of Canadian SACS mutants

Duration : 2 year project 
Grant: $74,000 in year 1
Contact:

Dr. Walid A. Houry, Department of Biochemistry, Faculty of Medicine, University of Toronto
661 University Avenue
Mars Centre, West Tower, Room 1612
Toronto, ON  Canada M5G 1M1
Tel: 416 946 7141; Fax: 416 978 8548
Email: walid.houry@utoronto.ca

Is ARSACS a Tauopathy?- Dr. Paul Chapple

The objectives of the project will be published at a later date

Duration: 3 year funded project

Grant: 32,827 pounds

Contact:

Dr. Paul Chapple

Dr.Paul Chapple, Professor of Molecular Cell Biology
Centre for Endocrinology Barts and The London, Queen Mary’s School of Medicine and Dentistry
1st Floor North ,John Vane Science Building,Charterhouse Square
London, EC1M 6BQ
T: +44 (0) 20 7882 6242
E: j.p.chapple@qmul.ac.uk

Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS – Dr. Anne McKinney

Aim 1 Identifying druggable Targets for potential ARSACS treatment

Aim 2 Characterize pathophysiology for future druggable target development

Duration : 2nd year of the funded project
Grant: $50,000
Contact:

Dr. Anne McKinney

Dr. Anne McKinney, Department of Pharmacology and Therapeutics, McGill University Bellini Life Sciences Bldg
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1
Tel: (514)-398-5685; Fax: (514)-398-2045; Email: anne.mckinney@mcgill.ca

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Elucidating Mechanisms Underlying Motor Coordination Rescue in a Mouse Model of ARSACS – Dr. Alanna Watt

Aim 1 Identifying druggable Targets for potential ARSACS treatment

Aim 2 Characterize pathophysiology for future druggable target development

Duration : 2nd year of the funded project
Grant: $75,000
Contacts:

Dr. Alanna Watt

Dr. Alanna Watt,Department of Biology McGill University Bellini Life Sciences Bldg.
3469 Sir William Osler, Montreal, Quebec Canada H3G 0B1 Office: Rm. 265 | Lab: Rm. 257
Tel: (514)-398-2806; Fax: (514)-398-5069; Email: alanna.watt@mcgill.ca

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Sacin’s role in Synapses: Early Pathological Changes in ARSACS- Dr. Bernard Brais

Aim 1: Sacsin’s role in dendritic spines morphology

Aim 1.1Assess the impact of sacsin loss on dendritic spines morphology

Aim 1.2. Assess the role of sacsin partners on dendritic spine morphology.

Aim 1.3. Study spine morphology in Sacs-/- mice.

Aim 1.4. Assess the role of sacsin on receptor internalization

Grant $100,000

Contact

Dr. Bernard Brais

Dr. Bernard Brais

Dr. Bernard Brais, co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital
3801 University Street Montreal, Quebec, Canada H3A 2B4
Tel:(514)-398-3334; Email: bernard.brais@mcgill.ca

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Characterization of Tau Hyperphosphorylation in ARSACS – Dr. Anthony Hickey

The goal of this proposal is to validate the misregulation of Tau in ARSACS and establish a platform from which to explore therapeutic targeting of proteins involved in tau pathology as a treatment for ARSACS.

Grant : $98,758

Contact:

Dr. Anthony Hickey, Director of UNC Catalyst for Rare Diseases, University of North Carolina

120 Mason Farm Road CB# 7356, Chapel Hill NC 27599

Tel: (919) 962-9819

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Optimization of Active Molecules Towards a Pre-Clinical in Vivo Proof of Mechanism of ARSACS Phenotype Reversal – Dr. Michel Bouvier

The goal is to develop small molecules that reverse the cellular phenotype of ARSACS into a drug that would stop the progression of the disease and/or lead to clinical improvement.

Grant: $160,000

Contact

Dr.Michel Bouvier, Institute for Research in Immunology and Cancer (IRIC)
IRIC | Université de Montréal C.P. 6128, succursale Centre-ville, Montréal (Québec) H3C 3J7
Tel: (514)-343-6319 ; Email: michel.bouvier@umontreal.ca

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Therapeutic Approaches for ARSACS- Dr. Benoit Gentil

To obtain preclinical proof-of-concept for ARSACS treatments based on:

1) a protein/gene replacement approach and 

2) drug treatment using HDAC inhibitors.


Grant: $100,000

Contact

Dr. Benoit Gentil, Department of Kinesiology and Physical Education, McGill University
475 Pine Avenue West, room 210, Montreal, Quebec  H3A 2B4

Tel: 514-398-4184 ext 00102  email:benoit.gentil@mcgill.ca

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