Katharina Buczek
Two to three out of every 100,000 newborns are born with Leber congenital amaurosis (LCA), the most common cause of inherited blindness in childhood that typically stems from a singular genetic mutation.
However, children impacted by LCA are witnessing promising outcomes through an innovative treatment leveraging CRISPR gene editing technology that’s aimed at restoring their vision.
LCA, a genetic disorder impacting the retina, often results in profound vision impairment or total blindness from an early age in affected children. One prevalent trigger for LCA is a defect in a gene known as CEP290, which is crucial for the formation and operation of the retina’s light-receptive cells known as photoreceptors.
However, a new study conducted by researchers at Massachusetts Eye and Ear and Oregon Health & Science University tested a novel therapy known as EDIT-101 on 14 LCA patients.
Essentially, EDIT-101 is a gene editing tool utilizing CRISPR technology to rectify the genetic defect within CEP290. CRISPR is an acronym for “clustered regularly interspaced short palindromic repeats” and represents a robust gene editing approach enabling researchers to make precise DNA alterations.
In other words, CRISPR is basically able to cut out a flawed or defective segment of DNA and substitute it with a corrected version. So, for EDIT-101, this CRISPR mechanism is tailored to precisely target and fix the most prevalent CEP290 gene mutation that leads to LCA.
First, the EDIT-101 complex, which houses the CRISPR components, is surgically injected into a patient’s retina – in their more affected eye. Then, once the CRISPR mechanism is inside the retina, it locates and cuts out the CEP290 mutation.
This, in turn, reinstates normal gene function, and the ultimate objective is to revive the functionality of the photoreceptor cells as well as improve vision.
So, for this study, the researchers administered a single injection of EDIT-101 to 14 different patients ages 3 and up. The injections had three different dose levels.
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