In A Groundbreaking Study, Researchers Tested A Novel Therapy Using CRISPR Gene Editing In Hopes Of Reversing Childhood Blindness Caused By LCA

Viacheslav Yakobchuk - stock.adobe.com - illustrative purposes only, not the actual people
Viacheslav Yakobchuk - stock.adobe.com - illustrative purposes only, not the actual people

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.

Viacheslav Yakobchuk – stock.adobe.com – illustrative purposes only, not the actual people

Afterward, the researchers monitored the patients for up to two years to gauge the treatment’s safety and efficacy.

And despite the results being in their preliminary stages, they’re still promising. The researchers observed no significant adverse effects associated with the treatment, which indicates that EDIT-101 is safe.

Moreover, 79% of the patients exhibited enhancements in at least one aspect of visual function, which encompasses parameters like retinal light sensitivity, visual acuity, navigational skills, or quality of life assessments.

Additionally, six of the patients showed significant enhancements in cone photoreceptor activity – or the cells crucial for color perception and visual acuity.

This is particularly interesting since LCA predominantly affects rod photoreceptors – which are responsible for peripheral and nocturnal vision – while cone cells are comparatively less affected.

So, improving cone functionality may substantially influence central vision and everyday functionality for patients.

“There is nothing more rewarding to a physician than hearing a patient describe how their vision has improved after a treatment. One of our trial participants has shared several examples, including being able to find their phone after misplacing it and knowing that their coffee machine is working by seeing its small lights,” said Dr. Mark Pennesi of Oregon Health & Science University.

“While these types of tasks might seem trivial to those who are normally sighted, such improvements can have a huge impact on quality of life for those with low vision.”

Two children who were 9 years old and 14 years old – representing the youngest study participants – showed the most significant response. They both demonstrated enhancements across multiple visual parameters, suggesting that intervening at an early age during retinal development may result in the most substantial benefits.

But, even though the preliminary findings are encouraging, it’s crucial to point out that this early-phase trial only involved a limited number of patients.

So, more extensive studies will be necessary to comprehensively evaluate the safety and efficacy of EDIT-101.

Additionally, the researchers will need to refine the treatment protocol to optimize dosage and injection timing for full efficacy.

Still, this trial is groundbreaking, showing how a single injection of EDIT-101 can lead to tangible vision improvements among patients previously afflicted with untreatable blindness.

It emphasizes how CRISPR gene editing can be effectively utilized to address inherited retinal conditions and lays the groundwork for its potential application in addressing both forms of blindness and other genetic disorders.

To read the study’s complete findings, which have since been published in the New England Journal of Medicine, visit the link here.

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Katharina Buczek graduated from Stony Brook University with a degree in Journalism and a minor in Digital Arts. Specializing ... More about Katharina Buczek
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