Remember the viral 2013 YouTube video featuring Gavin, a four-year old blind child walking independently with a white cane, and the hope that it stood for? Seven years later, there is another beacon of hope for kids like Gavin with Leber’s Congenital Amaurosis (LCA), a genetic eye disorder.
Recently, a patient with LCA at the Casey Eye Institute at Oregon Health and Science University in Portland made history as the first human to receive a new type of CRISPR gene therapy injected directly into their eye. The patient is one of the 18 people enrolled in a milestone clinical trial called BRILLIANCE, which is a collaboration between two giants, Allergan and Editas Medicine. Cynthia Collins, President and CEO of Editas Medicine said in a press release, “This dosing is a truly historic event – for science, medicine, and most importantly for the people living with this eye disease.”
LCA is a group of genetic, degenerative eye disorders caused by mutations in at least 18 different genes. It is the most common cause of inherited childhood blindness, with an occurrence of 2-3 per 100,000 births worldwide. The disease manifests itself in early years with severely affected eye cells and may quickly lead to blindness.
Though exciting, this isn’t the first attempt to cure inherited blindness using gene therapy. In December 2017, the U.S. Food and Drug Administration (FDA) approved the first directly administered standard gene therapy drug, Luxturna. However, this drug targets a different type of eye disorder and works differently than the CRISPR therapy for LCA.
Though research studies using genome-editing tools as a medicine have been undertaken for a decade, injecting CRISPR–Cas9 directly into the body marks a new dawn. Similar therapies, in the future, will increasingly employ CRISPR since it can be highly specified to cut DNA at certain therapeutic locations. The BRILLIANCE trial stands as a symbol of hope for patients with rare genetic diseases with no current cure available.