Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a relentlessly progressing genetic ataxia with no known treatment. A major mechanism underlies the pathogenesis of ARSACS is mitochondrial dysfunction that causes oxidative stress, resulting in neurodegeneration. Incidentally, mitochondrial dysfunction is also a pathogenic mechanism in another genetic ataxia, Friedreich’s ataxia (FA). Recent studies and clinical trials have demonstrated that omaveloxolone (brand name Skyclarys) can improve clinical symptoms in FA via enhancing the ability of mitochondria to cope with oxidative stress. This has led to approval by the FDA of Skyclarys for the treatment of FA.
Our team plans to administer Skyclarys to a mouse model of ARSACS and investigate whether Skyclarys can change the disease course in these mice. We believe the findings of our proposed study will be critical to determining whether omaveloxolone is appropriate for clinical trials in ARSACS.
This project is jointly funded by the Ataxia Charlevoix- Saguenay Foundation and the Massachusetts General ARSACS Fundraiser created by families in the USA.
Grant: $100,000 USD
Duration: one year
Contact:
Dr. Jeremy D. Schmahmann, M.D.
Professor of Neurology
Harvard Medical School
Massachusetts General Hospital
100 Cambridge Street, Suite 2000
Boston, MA 02114
jschmahmann@mgh.harvard.edu
Dr. Chih-Chun Lin, M.D.
Harvard Medical School
Massachusetts General Hospital
100 Cambridge Street, Suite 2000
Boston, MA 02114
clin69@mgh.harvard.edu