Funded Projects for 2014-2015

The following projects are approved for funding in the current fiscal year:

“The use of KO and KI mice, a human fibroblast model and Sacs mini-gene in the search of a treatment for ARSACS”
– Dr. Bernard Brais Co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital.

“Role of neurofilaments and mitochondria in the pathogenic cascade of ARSACS: Relevant biomarkers for therapeutic development”
– Dr.Heather Durham, McGill Department of Neurology

“Modelling ARSACS using induced pluripotent stem cell derived neurons with isogenic controls”
– Dr. Paul Chapple.

“New emerging team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies”
– Dr.Cynthia Gagnon.

“A randomised delayed entry trial of intensive home-based speech therapy in ARSACS”
– Matthis Synofzik.

Given its successful ethics IRB application, the research team can now perform systematic dysphagia studies in ARSACS.They have translated,implemented and validated the first dysarthria and dysphagia scores. They will start in March with the first piloting patients with the speech treatment program in Friedreich patients and later with ARSACS patients. In parallel,the research team will start the systematic speech and dysphagia characterization in ARSACS.

Contact: Dr. Matthis Synofzik, M.A.,Centre for Neurology andHertie-Institute for Clinical Brain Research, Hoppe-Seyler-Str. 3, D-72076 Tübingen
Tel: 07071/29-82060 * Email: * web:

“Design and Validation of a Custom Amplicon Panel for the Diagnosis of Spastic ARSACS and other ataxias”
– Dr. Paola Giunti, ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

Dr. Giunti’s project should contribute to diagnose ARSACS more efficiently and at lower cost. ARSACS has been described in Europe, North Africa, Turkey, Japan and Brazil. To date genetic testing to identify ARSACS patients remains expensive, time-consuming and consequently only available in specialist or research centres in the UK. There is therefore a pressing need for a quicker, cheaper and more available diagnostic test.

Dr. Giunti and other groups have shown that the retinal nerve fibre layer (RNFL) as measured by optical coherence tomography (OCT) is thickened in ARSACS, in contrast to most other neurodegenerative diseases in which the RNFL is normal or thinned. Her project is to develop a custom amplicon panel for spastic ataxias that will allow the diagnosis of ARSACS and to be used in the more general diagnosis of cases of spastic ataxia. It is planned that, if successful in this validation, it should enter routine use in the Neurogenetics Laboratory of the UCL/UCLH. She will then use the above panel to assess a cohort of patients with ataxia who have already undergone OCT scanning. This will allow her team to assess the sensitivity and specificity of OCT in diagnosing ARSACS.

Contact: Dr. Paola Giunti, Principal Clinical Research Associate,Honorary Consultant, Department of Molecular Neuroscience,UCL, Institute of Neurology,National Hospital for Neurology and Neurosurgery, Queen Square,London WC1N 3 BG,UK
Tel: +44 845 155 5000 sec. ext 723100 dir. ext 723153 * Fax: +44 207 2785616 * Email:

Care4Rare is a research project to identify therapeutic leads for rare diseases such as ARSACS. The Foundation is financing the ARSACS portion under the leadership of Dr. Kym Boycott and Dr. Alex MacKenzie from the Children Hospital of Eastern Ontario. Year 2 Summary

The phase II chronic study on the ARSACS mouse with respect to a compound is now at a wrap up stage. The conclusions of the study can be summarized by a problematic delivery of the compound. Therefore, the study will not be pursued further.

The Foundation is looking for researchers in Canada or USA to conduct research on ARSACS. If you are interested in the subject and you would like a new challenge, please contact the Foundation for more information by email at

La Fondation est à la recherche de chercheurs/partenaires intéressés à participer à la compétition E-Rare-3 2016. La date limite pour la pré-inscription des soumissions est le 2016-02-01. Pour plus d’information, consultez E-Rare-3 Call for Proposals.

Dr Francesca Maltecca’s research project “Investigating the Link Between Impaired Mitochondrial Trafficking and Calcium Dysregulation in SACS/Purkinje Neurons” will be receiving funding from the Foundation. Dr Maltecca is from the Universita Vita-Salute(Milan,Italy).

Read More

Dr. Kalle Gehring’s Article “High-Throughput Screening for Ligands of the HEPN Domain of Sacsin” published in the PLOS (Public Library of Science) in the September edition. Dr. Kalle Gehring is a member of the ARSACS research team. PLOS is a non-profit publisher and advocacy organisation funded to accelerate progress in science and medicine.

Invitation to the 9th edition of “Le Dîner des Producteurs”. The annual major fundraising event will be held this year on Thursday December 3,2015. Reserve your table now by completing the following form Reservation.

The ARSACS project entitled “PREPARE” and led by Dr. Matthis Synofzik (Germany) has been selected for funding as part of the international competition E-Rare-3 European Research Projects on Rare Diseases. A total of 234 projects were submitted last February and 19 were retained. The “PREPARE” project involves a consortium of ARSACS researchers from several countries (Canada, Germany, Netherlands, France, Italy and Turkey). Congratulations to Dr. Synofzik, Dr. Bernard Brais and to the consortium partners for this success!

Dr. Slaven Erceg’s research project, one of the projects funded by the Foundation for the 2015-2016 fiscal year, has received coverage in several spanish media. See Press release,or Communidad,or Infosalus, or Valencia.

The Foundation is pleased to announce that eleven research projects have been selected to share over $1.4M in research grants for its 2015-2016 research program. All applications received were evaluated by the Scientific Committee. The Foundation would like to thank all candidates who submitted a proposal.