Joshua C Chang, Molly R Ryan, Marie C Stark, Su Liu, Pravinkumar Purushothaman, Fria Bolan, Caitlin A Johnson, Mark Champe, Hui Meng, Michael W Lawlor, Sarah Halawani, Lucie V Ngaba, David R Lynch, Crystal Davis, Elena Gonzalo-Gil, Cathleen Lutz, Fabrizia Urbinati, Bala Medicherla, Carlos Fonck
Friedreich's ataxia (FRDA) is an autosomal-recessive disorder primarily attributed to biallelic GAA repeat expansions that reduce expression of the mitochondrial protein frataxin (FXN). FRDA is characterized by progressive neurodegeneration, with many patients developing cardiomyopathy that progresses to heart failure and death. The potential to reverse or prevent progression of the cardiac phenotype of FRDA was investigated in a mouse model of FRDA, using an adeno-associated viral vector (AAV8) containing the coding sequence of the FXN gene...
March 14, 2024: Molecular Therapy. Methods & Clinical Development