RG2833 is Well-Tolerated and Increases Frataxin Gene Activity

RG2833 is Well-Tolerated and Increases Frataxin Gene Activity. by Amy Madsen on May 17, 2013, Quest Magazine Online (MDA)


Article Highlights:

-Interim results from a clinical trial of RG2833 in people with Friedreich’s ataxia (FA) show that the experimental drug is well-tolerated, and that it appears to act by increasing frataxin gene activity (frataxin protein deficiency is the cause of FA).
-The main aim of the ongoing trial is to assess the safety of RG2833 in people with FA.
-Through its translational research program, MDA has awarded Repligen two grants, totaling more than $1.7 million, to fund development of RG2833 for FA.
-While the encouraging results are an important step forward in finding new drugs, Repligen's Jim Rusche said more tests will be required before a drug like this can be available as a safe and effective treatment for FA.

A Novel PGC-1α Isoform in Brain Localizes to Mitochondria and Associates with PINK1 and VDAC

A Novel PGC-1α Isoform in Brain Localizes to Mitochondria and Associates with PINK1 and VDAC. Joungil Choi, Vera Venkatanaresh Kumar Batchu, Manfred Schubert, Rudolph J. Castellani, James W. Russell. Biochemical and Biophysical Research Communications, Available online 17 May 2013.

Down-regulation of PGC-1α is associated with mitochondrial dysfunction and impaired lipid metabolism in obesity and diabetes both of which increases the risk of neurodegenerative diseases. Down-regulation of PGC-1α also have been reported in Friedreich's ataxia.

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia . Heather L. Plasterer, Eric C. Deutsch, Matthew Belmonte, Elizabeth Egan, David R. Lynch, James R. Rusche; PLoS ONE 8(5): e63958. doi:10.1371/journal.pone.0063958

Conclusions/Significance

Our data support the use of frataxin as a biomarker of drug effect. Frataxin levels are stable over time and as such a 1.5 to 2-fold change would be detectable over normal biological fluctuations. Additionally, our data support buccal cells or PBMCs as sources for measuring frataxin protein in therapeutic trials.