Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial

Friedreich ataxia (FRDA) is an autosomal recessive inherited neurodegenerative disorder leading to reduced expression of the mitochondrial protein frataxin. Previous studies showed frataxin upregulation in FRDA following treatment with recombinant human erythropoietin (rhuEPO). Dose-response interactions between frataxin and rhuEPO have not been studied until to date. We administered escalating rhuEPO single doses (5,000, 10,000 and 30,000 IU) in monthly intervals to five adult FRDA patients.

Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial