First Gene Therapy Clinical Trial to Address Genetic Blindness

Oregon Health & Science University (OHSU) held the first-ever gene therapy clinical trial, BRILLIANCE, to address blindness-causing gene mutation, LCA10, according to a recent press release

The clinical trial, sponsored by Allergan plc and Editas Medicine, is one of 14 different clinical trials investigating new genetic treatments for ophthalmic conditions and nearly 50 vision-related clinical trials. 

The procedure uses gene-editing tool CRISPR to edit human genes, also known as in vivo gene editing. Previously, gene-editing methods have edited genetic material after it was removed from the human body. 

“Being able to edit genes inside the human body is incredibly profound,” said Mark Pennesi, MD, PhD, the Kenneth C. Swan, associate professor of ophthalmology in the OHDU School of Medicine and chief of the OSHU Casey Eye Institute’s Paul H. Casey Ophthalmic Genetics Division.

“Beyond potentially offering treatment for a previously untreatable form of blindness, in vivo gene editing could also enable treatments for a much wider range of diseases,” added Pennesi, who leads OHSU’s involvement in the trial.

BRILLIANCE uses AGN-151587, an experimental medicine delivered via sub-retinal injection under development for the treatment of Leber congenital amaurosis 10, a rare form of inherited blindness, or LCA10 and CEP290-related retinal dystrophy, according to the press release.

The trial’s gene-editing is designed to be permanent but not passed onto the offspring of those who receive it through its gene editing approach. And Editas Medicine just recently announced that the first patient living with LCA10 was recently treated through the clinical trial. This outcome is promising, as patients currently living with this disease have had no treatment options prior, the company highlighted. 

“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. “The first patient dosed in the BRILLIANCE clinical trial marks a significant milestone toward delivering on the promise and potential of CRISPR medicines to durably treat devastating diseases such as LCA10. We look forward to sharing future updates from this clinical trial and our ocular program.”

Additional academic institutions involved in the clinical trial currently include OHSU, Bascom Palmer Eye Institute in Miami, Florida, Massachusetts Eye and Ear in Boston, and WK Kellogg Eye Center at the University of Michigan in Ann Arbor, Michigan.

Gene therapy is becoming increasingly popular in the US as a way to tackle some of the biggest healthcare challenges. 

At the end of February, the Institute for Gene Therapies (IGT) launched with the goal to modernize US regulatory and reimbursement framework for gene therapies. With gene therapies, providers have the opportunity to alter patients’ non-functioning genes or replace ones that aren’t present. This may help reshape the way thousands of health issues are treated, the institute stresses.

“The growth of innovative research and product development in the field of gene therapy is exciting to us as physicians, scientists, and regulators,” said FDA Commissioner Stephen M. Hahn, MD, said in the announcement. 

The FDA also released six final guidance documents on gene therapy manufacturing and clinical development of products. The documents will further efforts to create a modern structure for gene therapy development. 

“As the regulators of these novel therapies, we know the framework we construct for product development and review will set the stage for continued advancement of this cutting-edge field and further enable innovators to safely develop effective therapies for many diseases with unmet medical needs,” explained Peter Marks, MD, PhD, director of the FDA’s Center for Biologics Evaluation and Research.

At the beginning of January, He Juankui was sentenced to three years in prison for “illegal medicine practice” in China after he announced that he created the world’s first gene-edited babies using CRISPR.

The two colleagues who assisted him faced a shorter jail sentence. The Chinese government fears that he will not be the last person to perform criminal behavior using the new gene editing tool.

Juankui and his colleagues altered genes in human embryos that were implanted into one woman who gave birth in late 2018, and another women who gave birth in early 2019. Juankui was in pursuit for “fame and profit” at the time that this situation occurred.

“Scientists in China who are currently researching CRISPR for its potential to treat various genetic diseases by modifying cells other than embryos say that they fear He’s actions might have a chilling effect on their work too, even though it is not as ethically fraught,” the announcement stated.