Leber's Hereditary Optic Neuropathy

LHON is a genetic disease that results in the degeneration of nerve cells in the retina and optic nerve, which leads to the rapid loss of central vision and blindness. The symptoms of the disease predominantly affect young adult males. LHON is due to mutations of the genetic code within the mitochondria, the energy production centers of a cell. These mutations adversely affect the biochemical processes that ensure the cellular production of energy from nutrients, which can ultimately lead to cell damage and cell death.

The effects of LHON are rapid and severe, with the damage to retinal and optic neurons cells leading to blindness within a few months after the onset of symptoms. The symptomatic phase of the disease begins with blurring of central vision. Both eyes are usually affected within several months of symptom onset in the first eye. Within 12 months over 97% of patients will experience vision loss in the second eye, most often leaving them severely visually impaired. The prevalence of LHON was found in a recent study to be ~3 per 100,000.

The recently completed RHODOS trial showed that patients receiving Catena® benefitted in visual acuity endpoints compared to patients receiving placebo. Patients on Catena® who were almost completely blind recovered sufficiently to read at least 5 letters on a standard eye-chart and patients with residual vision were significantly protected from further disease progression. Santhera plans regulatory submissions for the indication in the first half of 2011.