ANN-003 is our gene therapy program for the treatment of the cardiomyopathy associated with Friedreich’s Ataxia utilizing an AAV vector to deliver a normal frataxin gene (FXN) to caridiomyocytes in order to restore mitochondrial function.
This program is based on the successful use of a gene-therapy approach in a mouse model developed to mimic the FXN gene defect and cardiac symptoms of Friedreich’s Ataxia1.
Adverum has progressed research of this gene-therapy approach to inform decisions about dosing and route of administration to be used in a clinical trial. An observational study was initiated in 2015 as a run-up to treating patients in an early-phase clinical trial.
Perdomini, M., (2014) Prevention and Reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich’s ataxia Nature Medicine Volume 20 (Number 5, May) 542-549