Eye on the Cure

When I joined the Foundation seven years ago, I was optimistic about the path we were on to find treatments and cures for retinal diseases. There was encouraging news from the research front. We were getting nice results in a variety of lab studies, and clinical trials – studies that involve actual patients — were beginning to appear on our radar screen. In fact, the Foundation’s clinical trial support organization, the National Neurovision Research Institute, had just been formed to move promising preclinical efforts into human studies.

But I have to say, the progress that we’ve made since then has been nothing short of incredible. Seven years is not very long in the world of medical research as I learned so well during my 14 years at NIH. But the recent advancements made by Foundation-funded and other scientists in cutting-edge gene therapy, stem cell, and pharmaceutical projects have been extraordinary. For me, it has been very gratifying and rewarding to be part of the effort to make these advances happen and be a part of this community and its progress.

Around the office, one of my favorite sayings is “the proof of the pudding is in the eating there of” when someone makes a claim about how wonderful a research project might be. Well, as we begin 2012, the pudding tastes pretty darn good.

Here are 12 reasons why I am so excited about our start to the new year:

• The Foundation is conducting a Phase II clinical trial of valproic acid, an FDA-approved seizure drug, for potentially slowing vision loss in people with autosomal dominant retinitis pigmentosa.
• Recent, early results from the first-ever human studies of a stem-cell-derived treatment for retinal disease (Stargardt disease and dry age-related macular degeneration), launched by Advanced Cell Technology, are very encouraging. The treatment has been safe thus far, and it provided modest vision improvement for the first two patients.
• Second Sight’s “bionic retina” became the first commercially available device of its kind. It can be purchased in Europe, and the company is working to bring it to market in the United States.
• The Foundation’s U.K. partner Oxford BioMedica is conducting the first-ever clinical trial of gene therapy for Stargardt disease.
• Clinical development of gene therapy for retinal degenerations has taken a big step forward with the successful treatment of patients’ second eyes in the Foundation-supported Phase I/II trial for people with Leber congenital amaurosis at The Children’s Hospital of Philadelphia (CHOP).
• The Foundation is investing more than $8 million in six gene therapy projects, all of which are scheduled to be ready for clinical trials within three years.
• A few months ago, the FDA approved Eylea for the treatment of wet age-related macular degeneration.  The therapy requires fewer injections than other available treatments.
• The FDA authorized Oxford BioMedica’s launch of the first-ever gene therapy clinical trial for Usher syndrome (type 1B).
• The Foundation is funding RetroSense, a company developing a gene therapy to restore vision in people who are completely blind from retinitis pigmentosa and other conditions. They are working to launch a clinical study in two to four years.
• The first-ever clinical trial of gene therapy for choroideremia began in Oxford, U.K.
• Gene therapy for X-linked retinitis pigmentosa is moving closer to a clinical trial thanks to success in canine study.
• The first-ever clinical trial of gene therapy for an autosomal recessive form of retinitis pigmentosa (MERTK mutations) is underway at the King Khaled Eye Specialist Hospital in Saudi Arabia.