Sonia Gobeil, co-founder of Ataxia of Charlevoix-Saguenay Foundation, discusses their organization and ongoing research for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
ARSACS is a rare neuromuscular disorder characterized by progressive cerebellar ataxia, peripheral neuropathy, and spasticity. Oculomotor disturbances, dysarthria, and upper-limb ataxia are also common symptoms. Disease onset typically occurs in early childhood, although adolescent and early-adult onset is not uncommon. The condition is caused by genetic variants in the SACS gene. There are currently no approved treatments for ARSACS.
Ms. Gobeil and her husband created The Ataxia of Charlevoix-Saguenay Foundation after their two sons received an ARSACS diagnosis in 2006. Since then, the organization has funded research projects to develop treatments for the disease and its symptoms. In 2018, the organization also set up an international patient registry that spans 38 countries.
This year, the foundation is working on launching its first pilot study for a repurposed drug used in the treatment of Friedreich’s ataxia, omaveloxolone. The treatment is currently being tested in ARSACS mouse models. The community is hoping for positive results that allow this drug to begin testing in patients with ARSACS.
Visit the Ataxia of Charlevoix-Saguenay Foundation website for more information at https://arsacs.com/
To learn more about rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/