Leber congenital amaurosis
Spark Therapeutics today announced positive top-line results from a Phase 3 pivotal trial of SPK-RPE65, an investigational gene therapy product for the treatment of RPE65-mediated inherited retinal dystrophies (IRDs). This research was funded in part by the Foundation Fighting Blindness, the world’s largest private funder of early, translational and clinical-stage research for blinding retinal diseases.
The Foundation Fighting Blindness is aware of the most recent results of the University of Pennsylvania and Moorfields RPE65/LCA2 gene-therapy trials, which were recently published in The New England Journal of Medicine and presented before the Association for Research in Vision and Ophthalmology on Sunday, May 3. These dosing trials have shown that retinal gene therapy for LCA2 is safe and that there is substantial improvement of vision in the treated area of the retina.
Rachel Huckfeldt, M.D., Ph.D., an up-and-coming clinical scientist, is receiving a one-year, $65,000 fellowship from the Foundation Fighting Blindness to gain the knowledge and experience to join the retinal clinical practice and launch a research program at the Massachusetts Eye and Ear Infirmary (MEEI). Her ultimate goal is to provide treatments and cures for people affected by retinal degenerative diseases.
The gene CRB1 is a key target in the fight against inherited retinal diseases such as retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) because mutations in it lead to significant, often devastating vision loss. Approximately 4,000 people in the United States are affected by the mutation, as many as 80,000 worldwide.
The rapidly advancing field of vision-saving gene-therapies is taking a significant step forward with the launch of a U.S. clinical trial for a treatment for choroideremia, a blinding condition affecting males. Researchers believe a single dose of the therapy, which replaces mutated copies of the choroideremia gene, CHM, with healthy copies, will halt or possibly reverse the disease process for several years. The Foundation Fighting Blindness provided funding over two decades for lab studies that helped make the trial possible.