McGill’s Novel Oral Medication Aims to Restore Vision in Patients with Childhood Blindness


McGill University researchers have developed a new oral medication to treat those suffering from childhood blindness called Leber congenital amaurosis.

The study's lead author Dr. Robert Koenekoop said that this is the first time an oral drug has enhanced visual function in blind patients with LCA. "The medication now restores hope in patients diagnosed with devastating retinal degeneration."

For the study, researchers administered this medication on 14 patients, aged between 6-38 years, with LCA condition.

The participants' blindness might have been caused due to mutations in the genes RPE65 or LRAT. Patients with RPE65 or LRAT mutations cannot generate a vital molecule called 11-cis retinal that captures light and initiate vision. Therefore, the retinal cells cannot create vision and eventually die.

The researchers observed expansion of visual fields in 10 participants and others displayed improvement in their visual acuity. Brain scans of the visual cortex showed enhanced brain activities in patients with better field size and acuity.

"By giving patients with RPE65 or LRAT mutations an oral retinoid intermediate (QLT091001) most patients' vision improved rapidly. We discovered that a certain portion of the retinal cells that were not working because of the lack of 11-cis retinal could be woken up," Koenekoop said in a press release.

"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. The oral drug we tested awakened these cells and allowed patients to see."

The finding is published in the journal The Lancet.  

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