Patients with Leber's congenital amaurosis are being discussed - a rare retinal condition that affects approximately one in 40,000 newborns. A genetic mutation leads to complete blindness in about a third of patients, and there are currently no approved treatment options available.
At the same time, a study conducted from 2021-2023 using the CRISPR gene editing tool showed promising results - the technology was used to correct
The tool essentially "cuts off" defective parts of genes, which can then be replaced with new strands of normal DNA. the main culprit gene CEP290 in 14 patients.
Each patient received treatment in one eye, and researchers then observed the results on four indicators: identification of objects and letters on a chart; how well patients could see colored light points in a full-field test and how well they could navigate a maze with physical objects and varying levels of illumination; as well as their own experience of changes in quality of life.
Of the 14 participants, 11 (79%) showed improvement in at least one of these four outcomes, while six (43%) improved two or more outcomes. 6 reported a better quality of life due to partial vision correction, while 4 (29%) showed clinically significant improvement in eye chart tests.
"There is nothing more pleasant for a doctor than to hear a patient describe how their vision has improved after treatment," said Mark Pennesi, the author of the study. "One participant was able to find his phone after losing it and saw that his coffee maker was working by noticing its small indicators. Although these types of tasks may seem trivial to people with normal vision, such improvements can have a huge impact on the quality of life of people with blindness".
No serious side effects were observed, and all were mild or moderate and disappeared. The study shows that CRISPR may be effective and safe not only for patients with Leber's congenital amaurosis, but potentially for other forms of blindness or genetic diseases in general.
The study was published in New England Journal of Medicine.
Since the creation of the CRISPR/Cas9 method in 2012, this technology has led to many important discoveries in fundamental research - for example, botanists have developed cultures resistant to mold, pests, and drought. Clinical trials of new cancer treatment methods are underway in medicine, and in the future, it is expected that genetic diseases will become curable. In 2020, scientists Jennifer Doudna and Emmanuelle Charpentier were awarded the Nobel Prize in Chemistry for the development of CRISPR.
Source: New Atlas
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