Oral drug improves vision in Leber’s

Researchers from McGill University, Johns Hopkins, and Stanford have developed an oral medication that can rapidly improve vision in some patients with Leber’s congenital amaurosis (LCA).

Their results were published this month in The Lancet. The medication is a synthetic replacement of the 11-cis retinal molecule. In the prospective, open-label, phase 1b trial, 14 patients with LCA aged 6 to 38 years received seven days of the drug (10—40 mg/m² per day).

After two years, 11 patients (79%) had returned to their baseline Goldmann visual field retinal area and ten (71%) had returned to baseline visual acuity letter values. Three patients showed sustained visual field response and four showed sustained visual acuity response. These improvements correlated with MRI results. No serious adverse events occurred.

“Contrary to what was previously thought, children with LCA and defects in RPE65 or LRAT are not born with dead retinal cells; the cells can simply go dormant, and they can remain dormant for years before they eventually die,” said Robert Koenekoop, professor of human genetics, pediatric surgery, and ophthalmology at McGill University and one of the study’s lead researchers. “The oral drug we tested awakened these cells and allowed patients to see.”