Edison Pharmaceuticals, a specialty pharmaceutical company, has begun a phase IIB study entitled, "Safety and Efficacy Study of EPI-743 on Visual Function in Patients with Friedreich's Ataxia”. The trial is a placebo-controlled study lasting six months, followed by an extension phase in which all subjects will receive EPI-743.

Subjects must be between 18 and 45 years of age, possess genetic confirmation of Friedreich's ataxia, and meet certain disease severity criteria. The primary endpoint of the trial is visual function, with secondary endpoints including neurological and neuromuscular function and disease-relevant biomarkers.

This trial is being conducted with the assistance of investigators from the Friedreich's Ataxia Research Alliance (FARA) Clinical Research Network and FARA's Patient Registry.

Ronald Bartek, president of FARA said, "FARA is excited about the commencement of the EPI-743 Friedreich's ataxia clinical trial, and is working closely with Edison Pharmaceuticals and Clinical Research Network investigators to expedite enrollment." Bartek further added, "This trial represents the importance of public-private partnership in drug development and the culmination of FARA-sponsored translational research, initiated with both FARA and National Institutes of Health (NIH) support."

Three clinical trial sites have been selected in the United States: University of South Florida – Tampa, Florida; Children's Hospital of Philadelphia– Pennsylvania; and University of California– Los Angeles, California. Enrollment has been initiated at University of South Florida.

"Given the encouraging clinical findings reported to date for EPI-743 in mitochondrial disease, we are eager to determine whether these results are distensible to Friedreich's ataxia," stated FARA Clinical Research Network investigator Theresa A Zesiewicz, MD, FAAN, Professor of Neurology, Director of the University of South Florida Ataxia Research Centre and one of the trial's principal investigators.

Friedreich's ataxia is an autosomal recessive nuclear DNA inherited mitochondrial disease, affecting an estimated one in 30,000 individuals in the United States and Europe. Friedreich's ataxia is caused by a defect in the gene frataxin, which encodes a 210 amino acid protein that participates in iron-sulfur (Fe-S) cluster protein assembly. As the majority of these Fe-S cluster proteins are localized in the respiratory chain in the mitochondria, patients with Friedreich's ataxia present with "energy failure" symptoms including ataxia, muscle weakness, heart failure, diabetes, and visual, speech, and hearing deficiencies. Friedreich's ataxia is a highly debilitating and life-shortening disease and is a member of a larger family of diseases called mitochondrial disease that share as a common biochemical mechanism defects in cellular energy metabolism. There are no FDA-approved drugs for Friedreich's ataxia.

EPI-743 is an orally bioavailable small molecule being developed by Edison Pharmaceuticals for the treatment of Friedreich's ataxia and other inherited mitochondrial diseases. EPI-743 is a member of the para-benzoquinone class of drugs. It serves as a cofactor for the novel drug target– NADPH quinone oxidase 1 (NQO1). Through a redox-based mechanism, EPI-743 augments endogenous glutathione biosynthesis– essential for the control of oxidative stress.