CRISPR treatment inserted directly into the body for first time

A person with a genetic condition that causes blindness has become the first to receive a CRISPR–Cas9 gene therapy administered directly into their body.

The treatment is part of a landmark clinical trial to test the ability of CRISPR–Cas9 gene-editing techniques to remove mutations that cause a rare condition called Leber’s congenital amaurosis 10 (LCA10). No treatment is currently available for the disease, which is a leading cause of blindness in childhood.

For the latest trial, the components of the gene-editing system – encoded in the genome of a virus – are injected directly into the eye, near photoreceptor cells. By contrast, previous CRISPR–Cas9 clinical trials have used the technique to edit the genomes of cells that have been removed from the body. The material is then infused back into the patient.

“It’s an exciting time,” says Mark Pennesi, a specialist in inherited retinal diseases at Oregon Health & Science University in Portland. Pennesi is collaborating with the pharmaceutical companies Editas Medicine of Cambridge, Massachusetts, and Allergan of Dublin to conduct the trial, which has been named BRILLIANCE.

This is not the first time gene editing has been tried in the body: an older gene-editing system, called zinc-finger nucleases, has already been administered directly into people participating in clinical trials. But the BRILLIANCE trial is the first to deploy the popular CRISPR–Cas9 technique – which has been hailed for its versatility and ease of design – directly in the body.