Cell and Gene Therapy for Friedreich Ataxia: Progress to Date
Marguerite V Evans-Galea, Alice Pebay, Mirella Dottori, Louise A Corben, Sze Hwee Ong, Paul J Lockhart, Martin B Delatycki
Human Gene Therapy | MARY ANN LIEBERT, INC | Published : 2014
Neurodegenerative disorders such as Friedreich ataxia (FRDA) present significant challenges in developing effective therapeutic intervention. Current treatments aim to manage symptoms and thus improve quality of life, but none can cure, nor are proven to slow, the neurodegeneration inherent to this disease. The primary clinical features of FRDA include progressive ataxia and shortened life span, with complications of cardiomyopathy being the major cause of death. FRDA is most commonly caused by an expanded GAA trinucleotide repeat in the first intron of FXN that leads to reduced levels of frataxin, a mitochondrial protein important for iron metabolism. The GAA expansion in FRDA does not alte..View full abstract
The authors are funded by the National Health and Medical Research Council of Australia (Project Grants to M. B. D., A. P., P.J.L., and M.V.E-G.; Career Development Fellowships, Level 2, to P.J.L. and A. P.; Early Career Fellowship to L. A. C.); the Australian Research Council (Future Fellowship FT1 to M. D.); Friedreich Ataxia Research Alliance, USA; the Friedreich Ataxia Research Association, Australasia; and the Victorian Government Operational Infrastructure Support Program.