Dimethyl Fumarate in Friedreich’s ataxia (FA)

Dr. Gino Cortopassi at the University of California Davis and other groups have observed that Nrf2 (Nuclear factor (erythroid-derived 2)-like 2, a protein that is critical in a pathway to protecting the cell from oxidative stress) is paradoxically decreased. Specifically, Dr. Cortopassi’s group has shown that Nrf2 protein is decreased in frataxin deficient cells and F A mouse models. Through a drug discovery program that screened a library of clinically-approved drugs, the group has identified several compounds that act as Nrf2 activators and rescue biochemical and cellular deficits related to frataxin deficiency. Ixchel Pharma LLC has options on this Intellectual property.
One of the compounds identified through the screen was dimethyl fumarate (a drug that has been approved for the treatment of multiple sclerosis and psoriasis). Dr. Cortopassi and colleagues have shown that dimethyl fumarate can induce mitochondrial biogenesis in multiple sclerosis patients and that this is via activation of Nrf2 pathway. Thus this group hypothesizes that other mitochondrial conditions, like F A, that have impairments of Nrf2 activation and loss of mitochondria might benefit from treatment with dimethyl fumarate.