Indication

Target/marker/pathway

Summary

Licensing status

Publication and contact information

Neurology

Ataxia

Frataxin (FXN; FRDA)

Mouse studies suggest FXN gene therapy could help prevent or treat heart failure in patients with Friedreich's ataxia. In presymptomatic mouse models of Friedreich's ataxia, an i.v. injected adeno-associated virus serotype 10 (AAV10) vector encoding FXN prevented the onset of left ventricular hypertrophy, loss of cardiac function and death from heart failure that were observed in untreated mice. In symptomatic mouse models of Friedreich's ataxia, the AAV10-FXN gene therapy decreased multiple symptoms, including left ventricular hypertrophy and cardiac fibrosis, and increased cardiac function and survival compared with no treatment. Ongoing work includes testing the dose response of the gene therapy in mice (see Reversing (heart) failure in Friedreich's ataxia, page 5).

SciBX 7(16); doi:10.1038/scibx.2014.466
Published online April 24, 2014

Patented by Cornell University and Institut National de la Santé et de la Recherche Médicale (INSERM); licensed to AAVLife S.A.S.

Perdomini, M. et al. Nat. Med.; published online April 6, 2014;
doi:10.1038/nm.3510
Contact: Hélène Puccio, Institute of Genetics and Molecular and Cellular Biology, Illkirch, France
e-mail:

hpuccio@igbmc.fr