Piggybacking on last week’s post by our CEO, Bill Schmidt, I wanted to tie two personal stories to exceptional advances made in retinal research in 2012. I’d be remiss if I didn’t mention that these advances were made possible by the generous support of FFB donors, and that future advances – which, eventually, will help 10 million Americans alone – depend on our donors’ continued support. I’ll revisit fundraising later in this post, but, first, you’ll find the first of the two stories – on how gene therapy restored some of a boy’s sight – below. The next story will be posted later this week.
Up through the age of 7, as The New York Times pointed out, Corey Haas, a New York state resident, was living virtually blind. A rare disease called Leber congenital amaurosis (LCA) had rendered him legally blind at birth, and he had since been forced to use a cane and learn to read Braille. Although he was attending his local school, where he received special-needs assistance, he wasn’t able to do what many boys that age can – play sports, ride a bike or see the blackboard.
But just after his 8th birthday – as part of a clinical, or human, trial taking place worldwide – Corey was given a gene therapy treatment in one eye that, over the next year, would improve his vision significantly. By the age of 9, he was navigating a once-impassible obstacle course, reading large-print books and playing Little League baseball. His parents, Nancy and Ethan, were understandably overjoyed, as previously they’d watched Corey’s eyesight steadily degenerate.
The clinical trial, conducted in part by Dr. Jean Bennett at The Children’s Hospital of Philadelphia, is funded by the Foundation Fighting Blindness. It, along with similar trials for LCA gene therapy, is ongoing, as it takes a few stages, over as many years, to prove that a treatment is both safe and effective. The latest good news, which Bill Schmidt included in his post, is that treatments of the participant’s second eyes, including Corey’s, have been successful thus far.
Over the last four decades, FFB has raised more than $500 million, and Corey’s story serves as a case study for what we are working so hard to accomplish – curing blindness. With this particular form of LCA, as with many diseases, the Foundation has been involved in every step of the process.
FFB funding enabled researchers to find the genetic defect causing the condition and conduct the pre-clinical work necessary to better understand the disease and develop a potential treatment deemed safe enough to administer to humans. Foundation funding was then used to execute clinical trials which have restored vision and improved the lives of Corey and roughly 40 other people affected by that specific form of LCA.
But tens of millions more – people with diseases like retinitis pigmentosa, Stargardt disease, Usher syndrome and age-related macular degeneration – are also seeking treatments.. Gene therapy clinical trials are either underway or on the horizon for each of these diseases and more, which is why the Foundation is asking people like you to donate to our “Light the Way to a Cure” holiday fundraising campaign. No donation is too small or large, and each supports our efforts to end blindness for those with retinal diseases.