OfSilvia Turin
New study on people suffering from congenital amaurosis: the experimental treatment was safe and effective. “For the first time I saw food on my plate,” says a patient
The CRISPR-Cas9 gene editing technique has been successfully used to improve the quality of life of people suffering from a form of blindness hereditary called amaurosis. A new study showed that the treatment is safe and brought improvement results in 11 of the 14 patients treated.
I study
Research, published May 6 in the New England Journal of Medicine by the Massachusetts Eye and Ear (Harvard Medical School University Hospital), involved 12 adults (aged between 17 and 63 years) and two children (aged between 10 and 14 years) born with a form of Leber congenital amaurosis (LCA) caused by the mutation of a gene: a disease that causes progressive and irreversible loss of vision up to blindness. The phase 1/2 study, called BRILLIANCE, focused primarily on the safety of the editing technique with a secondary analysis of efficacy.
No serious adverse events were reported related to the treatment or procedure, nor were any toxicities found related to the doses administered. Participants were monitored every three months for a year, then followed less frequently for another two years. Among them are the first congenitally blind children to be treated with CRISPR. Two adults received low-dose therapy, five received a medium dose, and another five received high-dose treatment.
The results
«Hearing from several participants how excited they were to finally be able to see the food on their plates it’s a great thing. These were individuals who could not read no lines on an eye chart and that they had no treatment options, which is the unfortunate reality for most people with inherited retinal disorders,” said Eric Pierce, director of theOcular Genomics Institute and first author of the research.
«One of our test participants shared several examples, including the possibility of find your phone after losing it and knowing that the coffee machine works by seeing his small lights. Although these types of tasks may seem trivial to those who are sighted, such improvements can have a huge impact on the quality of life of people with low vision,” added co-author Mark Pennesi.
The “cut and sew” technique
There CRISPR technique, also called the “DNA cut and sew” is now ten years old but its applications are still in their infancy. It allows both the destruction of a gene responsible for disease and for replace a diseased gene with a healthy gene and is proposed for the treatment not only of genetic diseases, but also of tumors (we talked about it HERE).
In the case described above the patients underwent a single injection of a CRISPR/Cas9 genome editing medicine, EDIT-101 into one eye, via a specialized surgical procedure. For this type of inherited blindness, the goal was to inject CRISPR for reach the retina of the eye to restore the ability to produce the CEP290 gene and protein responsible for light-sensitive cells.
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