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Dr Julie Greenfield, Research Manager at Ataxia UKNews kindly supplied by Goran Ilic

3 January 2012 - Researchers at the San Luigi Hospital in Torino, Italy, have been given the go-ahead to run a Phase I clinical trial of a new drug designed specifically to treat Friedreich’s ataxia. Regulatory approval was granted for this trial in which up to 20 patients with the condition will be tested with the drug, known as RG2833.

Scientists will aim to find out whether the drug is safe, and to learn more about its effects on the body. In particular, they will measure any changes in levels of frataxin, a key protein that is reduced in people with Friedreich’s ataxia.

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Dr. Mark PayneKindly supplied by Juan Carlos Baiges through the FAPG mailing-list

Accepted November 21, 2011.

Abstract

Friedreich’s Ataxia (FRDA) is the most common inherited human ataxia and results from a deficiency of the mitochondrial protein, frataxin, which is encoded in the nucleus. This deficiency is associated with an iron-sulfur (Fe-S) cluster enzyme deficit leading to progressive ataxia and a frequently fatal cardiomyopathy. There is no cure. To determine if exogenous replacement of the missing frataxin protein in mitochondria would repair the defect, we used the TAT protein transduction domain to deliver human frataxin protein to mitochondria in both cultured patient cells and a severe mouse model of Friedreich’s Ataxia. A TAT-Frataxin (TAT-FXN) fusion protein bound iron in vitro, transduced into mitochondria of FRDA deficient fibroblasts, and reduced caspase 3 activation in response to an exogenous iron oxidant stress.