Leber Hereditary Optic Neuropathy

Leber Hereditary Optic Neuropathy is a rare genetic disease affecting vision, caused by an anomaly of a mitochondrial gene, which leads to a sudden and asymmetric loss of central vision, generally between the ages of 15 and 30. Genethon contributed to the preclinical development and early clinical development of Lumevoq®, developed by Institut de la Vision and sponsored by Gensight Biologics.


Preclinical development. Licensed to Gensight, sponsor of the trial

What is Leber Hereditary Optic Neuropathy (LHON)?

Leber Hereditary Optic Neuropathy is a rare genetic disease which leads to a sudden loss of vision, most frequently in early adolescence or in early adulthood (before the age of 30). The decrease in visual acuity generally affects only one eye to begin with, leading to acuity of less than 20/400 in less than one week, or a gradual loss over 2 to 3 months. The other eye is affected afterwards.

There is currently no effective treatment for this disease.

LHON: Genethon’s role

The therapeutic approach involves restoring the activity of the defective mitochondrial gene in the retinal ganglion cells by administering an AAV vector carrying a normal copy of the mutated gene into the patient’s eye.

This gene therapy project is derived from the original work of Dr. Marisol Corral-Debrinski and Prof. José-Alain Sahel (Institut de la Vision, Paris).

The Lumevoq® product was brought to the preclinical stage as part of a collaboration with Genethon, who also worked on its early clinical development. The company Gensight Biologics is responsible for the clinical development.

The clinical trial is currently ongoing.

LHON: what’s happening today?

In 2018, Gensight published early results showing significantly improved vision in patients treated, in both eyes, whereas only one eye had been treated, implying that there is a bilateral effect to the treatment.

In November 2020, Gensight announced that it had completed the necessary steps for the Lumevoq® therapy to be reviewed by the European Medicines Agency with a view to obtaining marketing approval.  

LHON: find out more