A promising experience gene therapy improves vision in people with hereditary blindness

Results of a pioneering clinical trial showed that CRISPR gene editing improved vision in participants with hereditary blindness.

The researchers at Mass Eye and Ear said their findings support further research into CRISPR treatments for inherited retinal disorders.

The trial, called BRILLIANCE, demonstrated the safety and effectiveness of CRISPR gene editing technology in treating hereditary blindness caused by mutations in the CEP290 gene.

The trial included 14 participants who received a single injection of the CRISPR/Cas9-based drug, EDIT-101, which showed measurable improvements in vision in 11 participants.

This experiment represents the first time that CRISPR has been applied directly inside the body, highlighting its ability to correct genetic defects underlying severe visual impairment.

The results provide promising insights into treating conditions that were previously considered untreatable.

They also pointed out that this trial included the first patient ever to receive a research drug based on CRISPR technology directly in the body.

The study's lead researcher, Eric Pierce, explained that the trial shows that gene therapy for hereditary vision loss is a worthy endeavor for future research. He believes the early research is promising.

Pierce added: “It is significant to see how happy they were when they were finally able to see food on their plates. These were individuals who could not read a single line on an eye chart. They had no treatment options, which is an unfortunate reality for most sufferers of inherited retinal disorders.” ".

The treatment aims to inject CRISPR into the retina to restore the ability to produce genes and proteins.

Participants received an injection of the CRISPR/Cas9 genome-editing drug, EDIT-101, into one eye through a specific surgical procedure.

Among the 14 participants, 12 were adults, meaning their ages ranged from 17 to 63 years.

The remaining two participants were children aged 10 and 14 years. They were born with Leber's congenital blindness, a rare genetic disease that appears at birth or in the first few months of life, and occurs in about 2 or 3 out of every 100,000 newborns.

Leber's congenital blindness is an eye disorder that affects the retina and leads to severe visual impairment starting in childhood.

According to the data, different subtypes of the disease have been described, which are caused by genetic changes in different genes. Thus, this rare disease can be caused by more than 200 different genetic mutations.

The CEP290 gene provides instructions for producing a protein involved in the structure and function of cellular components. Therefore, mutations can lead to dysfunction and can impair the ability of photoreceptor cells to respond to light.

CRISPR/Cas9 is a set of gene editing tools that work like scissors to cut off part of the mutated genome to leave the gene active. For hereditary blindness, the goal was to inject CRISPR into the retina to restore the ability to produce the gene and protein responsible for light-sensitive cells.

To date, no serious adverse effects have been reported, confirming the safety of CRISPR/Cas9 therapy in the clinical setting.