Gene therapy can improve babies’ lives

With the support of Meiragtx, four young children have changed their vision improvements in their vision after groundbreaking new genetic medicine treatments through the UCL Ophthalmology Institute and Moorfields Ophthalmology Hospital.

Because it’s rare AIPL1 Gene. This condition is a form of retinal malnutrition, meaning that the affected person is born with only enough sight to distinguish between light and darkness. Genetic defects can cause retinal cells to malfunction and death, and children are legally considered blind. The new treatment is designed to enable retinal cells to work better and survive longer.

The program was developed by UCL scientists and includes injecting healthy copies of genes into the retina through keyhole surgery. These copies are contained in harmless viruses, thus penetrating the retinal cells and replacing the defective genes.

The condition is very rare, and the first batch of children found came from overseas. To alleviate any potential safety issues, the first four children received this novel therapy in just one eye. Over the next three to four years, the four fours made significant improvements in their eyes, but were invisible in untreated eyes.

Report on the results of new therapies The Lancetdemonstrated that gene therapy can significantly improve vision in children with this disease at a very young age – a condition that is rare, especially severe. Since 2020, the NHS has obtained another successful gene therapy for genetic blindness (RPE65 deficiency). These new findings offer hope that children affected by rare and more common genetic blindness may benefit from genetic medicine in a timely manner.

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

“Visibility disorder in young children has a devastating effect on their development,” said Professor James Bainbridge, a professor of retinal studies at the UCL Eye Institute and a consultant retinal surgeon at Moorfields Eye Hospital. This new genetic medicine can change the lives of those most affected.”

Professor Michel Michaelides, an ophthalmology professor at UCL Ophthalmology Institute and a consultant retinal expert at Moorfields Eye Hospital, commented: “For the first time, we have effectively treated the most severe forms of childhood blindness and potential paradigm metastasis at the earliest stages of the disease. These The child’s results are impressive and show the power of gene therapy to change lives.”

Parents of a child from Connecticut, USA, JACE shared details of their experience with experimental treatments, and they were accepted after JACE was diagnosed with aggressive LCA (Leber congenital Amaurosis).

Jace’s mother DJ said: “After the surgery, Jace immediately rotated, danced and made the nurse laugh. He began responding to TV and phone calls within a few weeks after the surgery and for six months His favorite car can be recognized from a few meters away. However, he spent some time dealing with what he could see now. Sleep may be difficult for children with vision loss, but he is more likely to fall asleep now. , which makes sleeping a pleasant experience.”

Jace’s father Brendan concluded: “We are very grateful for this opportunity and for the care he received. When the opportunity to participate for the first time, we want to provide him with everything, So that he can browse the world successfully. We also understand the huge impact on future research and how engagement can help others. It was a very positive experience and the results were simply amazing.”

The processing is developed and manufactured at UCL under a “Special Offer” license (MSL) held by UCL. Meiragtx supports production, storage, quality assurance and releases and offers products for treatment under the MSL of Gene Medicine.

The procedure for treating affected children occurred at Great Ormond Street Hospital. Children were evaluated in the NIHR MOORFIELDS Clinical Research Institute, and the NIHR Moorfields Biomedical Research Center provides the infrastructure for the research.

Professor Robin Ali, UCL Institute of Ophthalmology and King’s College of Gene Therapy and Regenerative Medicine, added: “This work demonstrates the importance of the UK Clinical Academic Centre manufacturing facilities and MHRA (the UK regulatory body for drug and health care products) therapies Can be used in very rare cases.”

Due to the generous donor contribution, the work was partially funded by the National Institute of Health and Care (NIHR), MeiragTX and Moorfields Eye Charity. Moorfields Eye Charity also supports Professor Bainbridge’s work, thus expanding the experimental medicine program, including initiating a gene therapy trial.