Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

In individuals aged >3 years with inherited retinal dystrophy (biallelic RPE65 mutations) (n=31), voretigene neparvovec was associated with improved functional vision, as measured by 1-year change in standardised multi-luminance mobility testing performance, versus control.

To the authors’ knowledge, this is the first Phase III RCT of a gene therapy for RPE65-mediated inherited retinal dystrophy, demonstrating the efficacy of voretigene neparvovec for a type of visual impairment that is otherwise untreatable with established classes of therapeutics.  

 

The authors say that these data also provide a foundation for a novel treatment paradigm that may be applicable to other causes of inherited blindness. In addition the manufacturing techniques employed in the development programme for voretigene neparvovec could potentially be applied to the treatment of other genetic diseases.