First clinical trial participant receives CRISPR-based therapy

The clinical trial is a collaboration between two companies, Allergan and Editas Medicine, and will test an editing approach to correcting a particular fault in the CEP290 gene, the gene associated with LCA10.

The phase 1/2 trial will eventually involve around 18 people with LCA10 at four centres in the USA and aims primarily to establish the safety and tolerability of the treatment, which is administered via injection into the back of the eye. Each participant will be followed for at least 12 months, with results of the trial expected by 2024.

“This dosing is a truly historic event – for science, for medicine, and most importantly for people living with this eye disease” said Cynthia Collins, President and CEO of Editas Medicine. “It marks a significant milestone toward delivering on the promise and potential of CRISPR medicines to durably treat devastating diseases.”

CEP290 provides the instructions for building a protein that is essential for the formation and stability of the light sensitive outer segment of photoreceptor cells. A mutation found in 60-90% of people with LCA10 results in incorrect editing and interpretation of the genetic code during protein construction, so that retinal cells end up with a significantly reduced amount of normal, fully functional CEP290 protein.

The trial treatment employs CRISPR editing technology to cut out the faulty part of the gene, thus restoring normal function and effectively ‘rescuing’ surviving photoreceptor cells from further damage. The hope is that this should arrest the progression of sight loss. Find out more about CRISPR, and how it differs from more traditional gene therapy.