Clinical Proof of Concept—Friedreich’s ataxia

Retrotope currently is assessing clinical proof of concept in the orphan mitochondrial disease, Friedreich’s ataxia (FA), a disease characterized by rampant lipid peroxidation.  In FA, low expression of a protein frataxin, which chaperones the formation of active iron sulfur clusters in the mitochondria, leads to mis-assembly of the clusters and the presence of free iron (a potent lipid peroxidation catalyst) in the inner surface of the mitochondrial membrane.  Inaccessible to sufficient amounts of antioxidants, a high rate of cyclic lipid peroxidation chain reaction eventually shuts down mitochondrial energy production, and kills the cells.  This occurs most widely in high energy tissues like the brain, retina, heart and muscle.

Retrotope’s current Phase 1b/2a clinical trial in Friedreich’s ataxia aims to determine the safety and efficacy of RT001, a highly stabilized version of the cardiolipin forming fat, linoleic acid.