Infographic: Randomized trial of bilateral gene therapy injection for m.11778 G > A MT-ND4 Leber optic neuropathy (REFLECT Trial)

Fig. 1: Currently, treatments for Leber Hereditary Optic Neuropathy (LHON) are few with limited efficacy. Because the disease has a well-defined genetic cause and retinal ganglion cells are relatively accessible, gene therapy delivered by intravitreal injection is viewed as a promising therapeutic strategy [ 1 ]. This infographic summarises the design and results of the REFLECT Trial. This trial was a multicentre, double-masked, randomised, sham-controlled trial evaluating the unilateral versus bilateral use of the gene therapy rAAV2/2- ND4 . All patients’ first-affected eyes received gene therapy, whilst patients were allocated either a sham intervention or further gene therapy in the second/not-yet affected eye. The primary outcome was change from baseline logMAR in the second/not-yet affected eye. The trial showed no statistically significant improvement in the primary outcome in both treated and non-treated second/not-yet affected eyes at 18 months, with both trial arms demonstrating minor improvement. The treatment effect was greater in patients who received bilateral treatment and there were no increased safety risks identified [ 2 ]. Full size image