Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia

M. Baile, D. Schecter, A. Miller, T. Galas, N. Scherer, R. Chen, N. Ruiz, D. Bettoun.; Mov Disord. 2022; 37 (suppl 1). Meeting: 2022 International Congress (September 15-18, 2022. Madrid, Spain) 

 Quantitation of expression levels of a small number of genes in buccal cells can be used to discriminate between healthy individuals and patients with FRDA. Treatment with CTI-1601 is effective in restoring the expression levels of 6 of those genes to levels similar to those observed in healthy individuals.

Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia