CRISPR Gene Editing Trial Treats Inherited Blindness
Researchers used a CRISPR-Cas9 tool to restore vision in adults and children with congenital blindness.
Researchers used a CRISPR-Cas9 tool to restore vision in adults and children with congenital blindness. They say they hope to cure disease soon.Scientists said they used a human the gene editing tool, CRISPR-Cas9, to restore vision in people with a rare form of inherited or congenital blindness.
The researchers said 11 out of the 14 people in a clinical trial experienced improved vision, without serious adverse side effects.
They said the study was also the first to use gene therapy to treat children who had been born with a form of blindness.
Harvard Medical School's Eric Pierce, who led the study, said that participants were "thrilled" to be able to see the food on their plates.
"These were individuals who could not read any lines on an eye chart and who had no treatment options, which is the unfortunate reality for most people with inherited retinal disorders," Pierce said in a statement.
The findings were published in The New England Journal of Medicine May 6, 2024.
CRISPR gene editing brings 'BRILLIANCE'
The trial was called "BRILLIANCE". It included 12 adults and 2 children, who had a rare form of inherited blindness, known as Leber Congenital Amaurosis (LCA). LCA affects about one in 40,000 people and causes severe vision loss at an early age.
Blindness in LCA is caused by a gene mutation that prevents a protein from functioning properly. That protein — CEP290 — is critical for sight.
Participants in the study received a single dose of a CRISPR gene therapy called EDIT-101.
CRISPR-Cas9 is considered a precise way of altering DNA. It cuts out specific strands of DNA — the thing that makes us who we are — and replaces them with a new strands.
In the case of EDIT-101, the treatment cuts out the mutation in CEP290 and inserts a healthy strand of DNA back into the gene. This restores normal function of the protein CEP290, allowing the retina to detect light.
Emmanuelle Charpentier and Jennifer A. Doudna were awarded the 2020 Chemistry Nobel Prize for discovering CRISPR-cas9.
EDIT-101 gene therapy restores vision
The BRILLIANCE study tested how well the participants could see colored lights, navigate a small maze in varying amounts of light and read from a chart after receiving the treatment.
Almost all of the participants, except three, showed some level of visual improvements. Six participants had major improvements in vision-related quality of life and could identify objects and letters on a chart.
According to the researchers, EDIT-101 caused no serious adverse side effects in participants. Some patients reported mild adverse effects which resolved quickly.
The future of CRISPR gene editing
More than two hundred people have been treated with experimental CRISPR technologies. But so far, only one CRISPR treatment has been approved for clinical use — Casgevy, a treatment for sickle-cell disease — which has been available in the US, EU, and UK since December 2023.
Scientists say they are entering a new phase in genome editing technologies, in which they say they can help and cure patients with a variety of diseases — not just treat them. And safely.
Ongoing clinical trials are testing other CRISPR therapies for HIV/AIDS, diabetes, cancers, cardiovascular diseases, and antibiotic resistance.
Edited by: Zulfikar Abbany
(The above story first appeared on LatestLY on May 06, 2024 07:10 PM IST. For more news and updates on politics, world, sports, entertainment and lifestyle, log on to our website latestly.com).