Activities and events

Following are the major activities or past events in 2020

 

IScience has published an Article on ARSACS in February 2021. Dr. Mohan Babu, supported by the ARSACS Foundation, is one of the researchers who contributed to the research.

A virtual meeting of the Foundation’s Board of Directors will be held on Thursday March 18, 2021.

The first international Rare Disease Day was celebrated in 2008 on February 29th, a rare date which occurs only every 4 years. Since then, the international Rare Disease Day has been held every year on the last day of February. This year, several online activities will be held to raise public awareness of rare diseases. More than 300 million people worldwide are living with a rare disease.

As part of the Rare Diseases Day (February 25) organized by GRIMM, Dr. Olivier Audet will present his research findings on muscle co-contractions in ARSACS patients. Infographie (in French only).

In case you missed it, this is a opportunity to view the virtual conference held on January 21 by Dr. Luc Hébert and Olivier Audet on the abnormal muscles co-contraction in ARSACS patients and possible avenues for interventions. Virtual conference. ( Text of presentation in French only)

Thank you to the donors who celebrated Maryse’s birthday by supporting ARSACS research!

There is still an opportunity to complete the PROSPAX survey. The deadline has been extended to Sunday January 31, 2021. So please take five minutes of your time to have your voice heard and be well represented in the research. Thank you very much if you have already completed the survey. It is very appreciated!

Invitation to individuals affected with ARSACS, their caregivers and health professionals to a free online presentation on Thursday January 21, 2021, 1:30pm-2:30pm “Abnormal muscle co-contraction in the lower limbs: a factor limiting the mobility of patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)”. The research results and avenues for intervention will be presented by Dr. Hébert and Olivier Audet. See Invitation for the ZOOM link. The English conference will be recorded and posted at a later date.

“The importance of balancing Sacsin protein levels in ARSACS” – the article written by Dr. Ambika Tewari and edited by Larissa Nitschke was published in SCA Source.

ARSACS case in Iran

Individuals affected by ARSACS can be found all around the world. Recently, an ARSACS case had been reported in Iran. Article published by Frontiers in Genetics in December 2020.

Article 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. The Foundation does not in any way guarantee the exactitude and reliability of the information contained in this publication. The Foundation is not responsible for the use that could be made with the information contained in this article. Finally, the Foundation is not to be held responsible for any damage caused directly or indirectly by this article or with the information that is contained.

Help us continue research on ARSACS. Every donation counts. Donate. Thank you and Happy Holidays!

Thank you to the donors who celebrated Sharline’s birthday by giving to ARSACS research.

Dr. Jacques Michaud is the recipient of the prestigious Pediatric Academic Leadership Clinician Investigator Award 2020. Dr. Guy Rouleau has been appointed to the Order of Canada for his excellence in clinical care and research.
Dr. Rouleau and Dr. Michaud are members of the Foundation’s Board of Directors.

As part of its mission, the Foundation is pleased to fund Dr. Walid Houry’s ARSACS research project “Towards the Structural Determination of Sacsin”. This project is in addition to the other seven projects already funded for 2020-2021 .

Dr. Gentil’s virtual conference «La recherche de thérapies géniques et de complémentation dans le traitement de l’ARSACS » French session on Thursday Nov 19 at 1:30pm. Register now.

The next virtual meeting of the Foundation Board of Directors will be on Wednesday December 2, 2020.

Dr. Gentil’s virtual conference « Research on Gene and Replacement Therapies to Treat ARSACS». Register in advance.

Special invitation to individuals affected with ARSACS, their caregivers and health professionals to a free online presentation on November 5th, 2020. Dr. Gentil will present in layman’s terms his research project « Research on Gene and Replacement Therapies to Treat ARSACS». Register in advance.

Note: The same conference will be also in French on November 19th (see the French site to register to the French presentation). A video of the presentation will be available on the Foundation’s website.

An excellent source of information on ARSACS published in the GeneReviews.
GeneReviews is an online database containing peer-reviewed articles that describe specific diseases. It was established in 1997 by the University of Washington in the US.

“Comment le patient peut-il, du diagnostic à l’innovation, faciliter son odyssée thérapeutique?” Invitation to all. Note that the free visioconference, organized by the Centre de recherche Centre Hospitalier Université de Montréal and les Hospices Civils de Lyon, is in French only and will be held on November 4, 2020. Several guest speakers will share their experience. For more information concerning the program and how to register click on Program . Register now.

According to Dr. Luc J. Hébert’s interim report , “it is becoming increasingly clear that in patients with ARSACS, the presence of inappropriate knee cocontractions is a major factor in mobility restrictions.” Dr. Hébert is the researcher responsible for the project “Caractérisation des déficiences musculaires associées aux difficultés à la marche et aux transferts chez des personnes atteintes d’ARSACS ; de la cellule à la fonction” Note: The interim report is available in French only.

Article published in the Quotidien. Nicolas Claveau, affected by ARSACS , has the intention to go around the Lac St Jean on an adapted bike to support the ARSCS research. Good luck Nicolas !

The next meeting of the Foundation’s Board of directors will be held on Thursday June 4, 2020 ( via Zoom meeting ) .

Thank you to all of you who celebrated Louise’s birthday by contributing to ARSACS research. Each donation is key to continue research on ARSACS.

A personal thank you note from Katherine Samson et Steve Bourget for your contribution. ( French version only )

Congratulations and thank you to Katherine Samson and her team for this great success! $25,000 raised by selling 5,000 “Ça va bien aller” stickers. A special thank you to Mrs. Louise Lajoie, real estate agent at Remax Saguenay-Lac-Saint-Jean, who played a key role in this fundraising activity.

The Foundation, a financial partner with the Canadian Institutes of Health Research, is pleased to confirm that the “European Joint Programme on Rare Diseases 2020” (EJP-RD JTC2020) competition is moving on according to its original timelines even with the current COVID-19 pandemic.

Special thanks to the team: Katherine, Steve, Nadine, a real estate agent from Lac St-Jean, Pro-Style Lettrage company and the supporters who have purchased their sticker.

Lets continue to encourage Katherine to reach the objective of 5000 stickers. Help us by ordering your “Ca va bien aller” sticker via Katherine’s Facebook page .

Thank you to those anonymous donors who celebrated Stephanie’s birthday by giving to the ARSACS research.

Congratulations to Katherine Samson, mother of two children with ARSACS, for her great initiative! More than 400 stickers “Ça va bien aller” sold already to finance ARSACS research. You can order your $5 sticker via Katherine’s Facebook page. Thanks to Katherine and to all of you for supporting ARSACS research.

Patients from 21 different countries are registered in the International ARSACS Patient Registry. ARSACS is around the world. See map of the country of the registered patients.

The Foundation would like to thank all anonymous donors who celebrated Rachelle’s birthday with a donation to support ARSACS research.

The next meeting of the Foundation’s Board of Directors will be held in Montreal on Thursday June 4, 2020.

Dr. Cynthia Gagnon, member of the ARSACS research team, has designed with her colleagues a new set of measurements to track the ARSACS symptoms. This new index called DSI-ARSACS will help to better assess how the disease is progressing and will provide the means to compare different groups of patients. There is now a reliable and standardized test, an essential element in conducting clinical trials.  Article published in the SCA Source.

This is a special invitation to researchers interested in ARSACS to submit their research proposal by Friday May 22, 2020. 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.

Each year, the Foundation offers annual research fellowships to advance the understanding of the disease and lead to a treatment. So send your proposal and required documents . Application and Appendix


Deadline to send your proposal: Friday May 22,2020.

The “Diner des Producteurs 2019” will be part of the Télé-Québec TV program “Un Chef à la Cabane” , Friday, February 14 at 8:00 pm. Behind the scene, the preparation of this annual benefit event with guest chef Pierre Gagnaire at work.

Thank you to the individuals who have responded to the email sent requesting to confirm or update their data in the ARSACS Patient Registry. If you did not have a chance to respond yet, please send an email to administrator@arsacs.com to confirm or update your data. It would be greatly appreciated. By being registered, you will be informed of any major developments and the possibilities of clinical trials. In addition, this registry builds an international network with all the positive impacts i.e. creating greater awareness of the disease, increasing research funding opportunities and generating interest from researchers and pharmaceutical companies.

Furthermore, if you or a family member has received an ARSACS diagnostic and are not registered, you are invited to do so. It is easy and simple. Go to https://www.arsacs.com/registry/

A new version of the ARSACS reference article in the GeneReviews is now available.

The Foundation is proud to announce that it will continue to work with the Canadian Institutes of Health Research and the European Union as part of the European Joint Programme on Rare Diseases 2020. The Foundation will fund $225,000 over a 3-year period for projects on Ataxia Charlevoix-Saguenay.  The Canadian investment  will be used to fund the participation of Canadian researchers in multinational research consortia in areas such as rare diseases.