Genetic Breakthrough Restores Vision: Infants Gain New Sight, Study Reveals - Video

Four young children have gained life-changing improvements in sight following treatment with a pioneering new genetic medicine through UCL Institute of Ophthalmology and Moorfields Eye Hospital, with the support of MeiraGTx.

The outcomes of the new treatment, reported in The Lancet, show that gene therapy at an early age can dramatically improve sight for children with this condition – one that is rare and particularly severe.

The children were born with a severe impairment to their sight due to a rare genetic deficiency that affects the AIPL1 gene. The condition, a form of retinal dystrophy, means those affected are born with only sufficient sight to distinguish between light and darkness. The gene defect causes the retinal cells to malfunction and die, with children affected being legally certified as blind from birth. The new treatment is designed to enable the retinal cells to work better and to survive longer.

The procedure, developed by UCL scientists, consists of injecting healthy copies of the gene into the retina, at the back of the eye through keyhole surgery. These copies are contained inside a harmless virus, so can penetrate the retinal cells and replace the defective gene.

The condition is very rare, and the first children identified were from overseas. To mitigate any potential safety issues, the first four children received this novel therapy in one eye only. All four saw remarkable improvements in the treated eye over the following three to four years, but lost sight in their untreated eye.

The team is now exploring the means to make this new treatment more widely available.

Ref: Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study, The Lancet, funded by the National Institute for Health and Care Research (NIHR), MeiraGTx and Moorfields Eye Charity.