Doctors cure rare blindness in infants with gene therapy
21 Feb 2025

In a groundbreaking medical feat, a team of doctors in London has successfully cured blindness in children suffering from a rare genetic disorder.

The innovative treatment involved the use of gene therapy on patients diagnosed with Leber congenital amaurosis (LCA).

The condition, a severe type of retinal dystrophy, is caused by a defect in the AIPL1 gene and leads to vision loss from birth.

Innovative gene therapy restores vision in children
Therapy details

The groundbreaking treatment included injecting healthy copies of the AIPL1 gene into the patients' eyes, a process that took only an hour.

After the treatment, four children were able to see shapes, find toys, identify their parents' faces and in some cases even read and write.

"The outcomes for these children are hugely impressive and show the power of gene therapy to change lives," said Professor Michel Michaelides from Moorfields Eye Hospital.

Gene therapy: A potential paradigm shift in treatment
Treatment impact

The gene therapy was given to four children aged between one and two, from the US, Turkey, and Tunisia.

The AIPL1 gene, essential for photoreceptors' function in the retina, was delivered through a harmless virus.

"We have an effective treatment for the most severe form of childhood blindness," Michaelides said. He also hinted this could be a potential paradigm shift toward treating at the earliest stages of the disease.

Post-treatment observations and parental reactions
Patient progress

The kids were monitored for five years post the treatment, with only one eye treated per patient to avoid any potential safety risks.

The findings were published in The Lancet journal.

Parents of one child called the results "pretty amazing" and thanked the researchers for letting them benefit from this groundbreaking therapy.

Their son Jace, who was two at the time of treatment, can now pick up tiny objects and identify toys from a distance.

UCL developed treatment under special license
Treatment development

The University College London (UCL) developed this treatment under a special license from the Medicines and Healthcare Regulatory Agency (MHRA), with support from gene therapy company MeiraGTx.

Since the first four kids received therapy, seven more have been treated at Evelina London Children's Hospital by specialists from St Thomas's hospital, Great Ormond Street, and Moorfields.

This is a major step in gene therapy and treating genetic disorders.