University of South Florida

Edison, FARA and USF announce EPI-743 Phase 2 Friedreich’s ataxia clinical trial in adults with point mutations

First patient enrolled to evaluate investigational drug’s effectiveness  in rare Friedreich’s ataxia genotype

Mountain View, CA; Downingtown, PA; & Tampa, FL (Nov. 4, 2013) — Edison Pharmaceuticals, the Friedreich’s Ataxia Research Alliance (FARA) and the University of South Florida (USF) today announced the initiation of a phase 2 study entitled, “Phase 2A Clinical Trial of EPI-743 on Visual Function in Friedreich’s Ataxia Patients with Point Mutations.”

Given the rarity of the Friedreich’s ataxia point mutation genotype, the trial is a single-arm, subject-controlled study lasting three months, followed by a three-month extension phase.  Study participants must be between the ages of 18 and 65, possess genetic confirmation of Friedreich’s ataxia point mutation defect, 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.  More information on study specifics is available on

This trial will be conducted at USF Health – a member of the Collaborative Clinical Research Network in Friedreich Ataxia– and is funded by a grant awarded by the Friedreich’s Ataxia Research Alliance. The study sponsor is USF, and the principal investigator is Theresa A. Zesiewicz, MD, FAAN, professor of neurology and director of the USF Ataxia Research Center.

“FARA has been eager to see drug development efforts extend into ultra-rare subgroups of Friedreich’s ataxia, such as those harboring point mutations,” said FARA President Ronald Bartek. “This is the first study dedicated to examining safety and investigational drug response in adults with point mutations in the frataxin gene that represent approximately 2 to 4 percent of the Friedreich’s ataxia patients.”

EPI-743 is currently being evaluated in a phase 2B placebo-controlled Friedreich’s ataxia trial in individuals with the more common triplet repeat expansion defect in frataxin synthesis.

Friedreich’s Ataxia

Friedreich’s ataxia is an autosomal recessive nuclear DNA inherited mitochondrial disease, affecting an estimated 1 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.

Edison Pharmaceuticals

Edison Pharmaceuticals is a biotechnology company dedicated to developing treatments for children and adults with mitochondrial diseases. More information can be found at


The Friedreich’s Ataxia Research Alliance (FARA) is a national, public, 501©(3), non-profit, tax-exempt organization dedicated to curing Friedreich’s ataxia (FA) through research. FARA grants and activities provide support for basic and translational FA research, pharmaceutical/ biotech drug development, clinical trials, and scientific conferences. FARA also serves as a catalyst, between the public and scientific community, to create worldwide exchanges of information that drive medical advances. For more information about FARA, visit them online at

USF Health

USF Health is an integral part of the University of South Florida, a global research university ranked 50th in the nation by the National Science Foundation for both federal and total research expenditures among all U.S. universities. USF Health’s mission is to envision and implement the future of health. It is the partnership of the USF Health Morsani College of Medicine, the College of Nursing, the College of Public Health, the College of Pharmacy, the School of Biomedical Sciences and the School of Physical Therapy and Rehabilitation Sciences; and the USF Physician’s Group. For more information, visit

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