Kyle Bryant Translational Research Award

R. Mark Payne, MD

Indiana University School of Medicine, Indianapolis, IN
Optimizing delivery of frataxin using cell penetrant peptides

Friedreich’s Ataxia is a debilitating disease leading to loss of the ability to walk or use the arms, and frequently results in early death due to heart failure. It most often comes on in childhood and patients progress to a wheelchair over the course of the next 10 years. There is currently no cure for this neurologic disease. However, we have recently shown that we can deliver the missing protein that causes the disease, frataxin, into the mouse to rescue the mouse model of this disease. These exciting findings are being prepared for publication, and we have now focused our laboratory on developing protein replacement strategy as a new drug to treat Friedreich’s Ataxia. In order to move this research into preclinical development as a drug, we first need to determine the best molecule to move forward and optimize the conditions for expression and purification of the protein we are developing, called TATFrataxin. Finally, a key tool in this research that is missing is a good antibody that will allow us to detect frataxin expression in mouse tissues. This project will solve these 3 problems within the year of this research to enable preclinical development of TAT-Frataxin as a drug for Friedreich’s Ataxia.