Emerging gene therapy for RDH12-associated Leber congenital amaurosis cleared for clinical trials

An emerging gene therapy treatment for Leber congenital amaurosis (LCA) received the green light from the U.S. Food and Drug Administration to proceed with clinical trials in people, bringing it one step closer to patients with a rare form of childhood blindness.  The potential treatment from Opus Genetics – OPGx-RDH12 – is targeted to patients who have LCA associated with mutations in the RDH12 gene, according to a press release from Opus.

LCA is estimated to affect about 200,000 people around the world, while Opus estimates that the form caused by mutations in the RDH12 gene affects an estimated 30,900 people globally. The company plans to start a Phase 1/2 clinical trial later this year, according to George Magrath, M.D., the Chief Executive Officer of Opus Genetics.

Mutations in the RDH12 gene affect protein function and the structure of the retina, impacting vision early in life. OPGx-RDH12 is designed to deliver a working copy of the RDH12 gene to the light-sensing cells in the retina using an adeno-associated virus. So far, according to Opus, the treatment has only been tested in cells and in mouse models, which showed improvements in the function of the RDH12 protein and functional improvements, paving the way for clinical trials.

Opus Genetics, now a publicly traded company, was founded in 2021 by the Foundation Fighting Blindness. Opus received $19 million in seed funding from the Foundation’s Gund Vision Fund – previously called the Retinal Degeneration Fund – a venture philanthropy fund for emerging retinal disease therapies in or nearing early-stage clinical trials.

Genetic testing can help confirm an RDH12 mutation in LCA patients. Free genetic testing is available through the Foundation’s My Retina Tracker® Genetic Testing Program, and can connect patients with relevant clinical trials. See also the Foundation’s clinical trial pipeline for more information on other potential LCA therapies.