A gene therapy developed by scientists in the UK has been granted orphan drug designation by the US FDA and the European Commission, as well as rare paediatric disease designation (RPDD) by the FDA after it was shown to restore some vision to legally blind children with an inherited retinal condition.
As reported in New Atlas, All 11 children in the clinical trial saw improvements within weeks of a single surgical treatment.
The report said the children were all born with a form of severe retinal dystrophy called LCA4, leaving them with only a limited ability to perceive light. This form of the disease is caused by mutations in the AIPL1 gene, which results in deficiencies of the protein of the same name.
That protein plays a key role in converting light into electrical signals that the brain can interpret.
In the study, published in the journal The Lancet, the children received a gene therapy targeting AIPL1 delivered directly into their retina.
Four weeks after their treatment, their vision was evaluated using a range of tests, including following a pen light, moving crayons between cups, locating white objects on a dark background, and navigating a corridor. Retinal structure and brain activity in response to light were also measured.
All 11 children treated experienced “meaningful responses” to the therapy. They were all between one and four years old at time of treatment, and their progress has been followed for three to four years since.
According to the report, the first four children received the treatment in one eye, and the tests were conducted in both the treated and untreated eyes independently. By the end of the study period, the untreated eyes of all four children showed no perception of light or were unmeasurable. The treated eyes had advanced from legally blind to low vision.
A second cohort of seven children received the gene therapy in both eyes. Their trial is still ongoing, but the early results look just as promising, according to the researchers.
“The improvements demonstrated are unrivalled in treatment benefit compared to any ocular gene therapy in any inherited retinal disease,” said Dr Alexandria Forbes, president and chief executive officer of MeiraGTx, the genetic medicine company developing the therapy.
“These improvements extended outside the meaningful effects on vision and result in life-changing benefits in all areas of development including communication, behaviour, schooling, mood, psychological benefits and social integration.”
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