A gene therapy treatment has enabled sight improvements for blind infants, through pioneering work by University College London’s (UCL) Institute of Ophthalmology and Moorfields Eye Hospital.
Children born with a rare genetic deficiency, affecting the AIPL1 gene, who were blind from birth, have successfully undergone treatment at Great Ormond Street Hospital to revive dying retinal cells.
The procedure involved injecting healthy copies of the gene encased in a harmless virus into the retina through keyhole surgery, replacing the defective gene.
All four children participating in the trials experienced sight improvements in the eye treated in the following three to four years, compared to their untreated eye that continued to deteriorate. Due to health and safety risks, only one eye was given the experimental medicine.
As the condition was rare, children from overseas were invited to participate in the experimental medicine, which was developed and manufactured by the UCL Institute of Ophthalmology, administered at the Great Ormond Street Hospital and assessed over the following years in the NIHR Moorfields Clinical Research Facility.
Professor Michel Michaelides, professor of ophthalmology at the UCL Institute of Ophthalmology and consultant retinal specialist at Moorfields Eye Hospital, said: ‘We have, for the first time, an effective treatment for the most severe form of childhood blindness, and a potential paradigm shift to treatment at the earliest stages of the disease. The outcomes for these children are hugely impressive and show the power of gene therapy to change lives.’
The UCL team has now been exploring the means to make this new treatment more widely available