Leber's Hereditary Optic Neuropathy (LHON)

June 13, 2016

GenSight Biologics issued results of a phase I/II study designed to demonstrate the safety and tolerability of GS010 in 15 patients with Leber’s Hereditary Optic Neuropathy (LHON). Each cohort of three patients was administered an escalating dose of GS010 through a single intravitreal injection in the eye most severely affected by the disease. At 48 weeks post-injection, in patients with an onset of disease of less than two years, a gain of +30 letters (-0.59 LogMAR) was observed in the treated eye and +13 letters (-0.25 LogMAR) in the untreated eye, a difference of 17 letters in favor of the treated eye. No significant difference was observed in patients with an onset of disease of more than two years. The combined effect of the administered dose and the time from onset is noticeable at 36 weeks and stable after 48 weeks. Gensight Biologics is currently conducting two phase III clinical studies (Rescue and Reverse) in Europe and the U.S. to assess the efficacy of GS010 in patients affected with LHON due to the ND4 mutation, with an onset of vision loss of less than one year. The top-line results at 48 weeks follow-up are expected in late 2017.

June 21, 2010

Santhera released positive results from a phase III trial of Catena for the treatment of Leber's Hereditary Optic Neuropathy (LHON). This double-blind, randomized, placebo-controlled study, dubbed RHODOS (Rescue Of Hereditary Optic Disease Outpatient Study), enrolled 85 acute patients as well as those experiencing vision loss for up to five years. Treatment took place in Germany, the United Kingdom and Canada. The subjects received Catena 900 mg/day or placebo. The primary endpoint was the best recovery in visual acuity in either eye measured by change in logMAR between baseline and week 24. In the intent-to-treat population (n≡82) the subjects receiving Catena improved on average by six letters while subjects receiving placebo improved by three letters (p≡0.291). A secondary endpoint was best visual acuity at week 24 compared to best visual acuity at baseline. The visual acuity in the Catena group was five letters better at week 24 than the placebo group (p%equiv;0.078). In a prespecified secondary endpoint analyzing the change of all subjects' eyes separately to increase the power of the study, the visual acuity of eyes of patients receiving Catena significantly improved compared to those receiving placebo (p=0.026). A responder analyses of subjects who were unable to read the eye-chart at baseline showed that seven out of 25 (28%) receiving Catena recovered sufficient visual acuity to read at least five letters on the eye chart compared to zero out of 13 (0%) individuals in the placebo group (p≡.072).

May 5, 2008

Targeted Genetics reported positive results from a phase I/II trial of their RPE65 gene therapy for the treatment of retinal dystrophy due to Leber's congenital amaurosis (LCA). This single-center, open label study enrolled nine young adults, between the ages of 17 and 23 years, with early-onset severe retinal dystrophy due to LCA. The subjects were administered a single subretinal injection of the AAV vector expressing RPE65. In each subject, the eye with the worse acuity was selected as the study eye and the other was used as a control. After two weeks, data from the first three treated subjects showed that they had improved vision in the injected eye and could read several lines on an eye chart. They also had less nystagmus after six months and one subject showed a significant consistent improvement in visual function and subjective tests of visual mobility No adverse events or inflammation were reported. Based on the results the company planned to enroll additional subjects into the trial.