Edison Pharmaceuticals and Bambino Gesu Children's Hospital have initiated a Phase II trial of EPI-743 in patients with cobalamin C defect.
The orally bioavailable small molecule, EPI-743, is being developed to treat Friedreich's ataxia and other inherited mitochondrial diseases.
The study is intended to identify if EPI-743, a member of the para-benzoquinone class of drugs, holds a therapeutic benefit for intermediary metabolism disorders that also result in redox disturbances.
EPI-743, which serves as a cofactor for the novel drug target NADPH quinone oxidase 1, enhances endogenous glutathione biosynthesis through a redox-based mechanism, required for oxidative stress control.
Bambino Gesu Children's Hospital, Divsion of Metabolism and trial principal investigator Professor Carlo Dionisi-Vici said Cobalamin C deficiency is an inherited disorder inducing perturbations in the metabolism of glutathione.
"Given the central role of glutathione in cellular redox balance and antioxidant defense systems, we are eager to explore whether a therapeutic that increases glutathione such as EPI-743 will provide clinical benefit," Dionisi-Vici said.
The trial is a 12-month placebo-controlled study, preceded by a six-month run-in phase for all patients to establish a defined clinical and metabolic baseline, according to the company.
Improvement in visual function is primary endpoint. Secondary outcome measurements will evaluate neurologic and neuromuscular function, glutathione biomarkers and quality of life, while establishing safety parametres.