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 8^th 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.

Donate to FFB’s “Light the Way to a Cure” Campaign:

But I wanted to highlight a particular effort that addresses an important need in gene therapy for retinal degenerations: Delivering large corrective genes to cells in the retina.

For those of you who’ve seen the original “Jaws,” the summer blockbuster movie of 1975 about a killer shark terrorizing beachgoers, you may remember one dramatic scene. After he sees the enormous shark up close for the first time, Police Chief Brody, played by Roy Scheider, declares, “We’re gonna need a bigger boat.”

That’s the kind of situation we find ourselves in with diseases like Usher syndrome 2A (USH2A), LCA caused by defects in the CEP290 gene and RP caused by defects in EYS. We need a “bigger boat” to deliver healthy versions of these and other large genes to the retina. While current viral gene delivery systems, such as adeno-associated viruses and lentiviruses, are working well in clinical trials for retinal disease, they aren’t able to carry very large genes.

That’s where the nanoparticle-based gene therapy research being conducted by Dr. Muna Naash at Oklahoma University Health Sciences Center comes in. Nanoparticles are like tiny manmade rocks that are 1/12,000th the diameter of a human hair. Scientists can wrap just about any sized gene in them. Dr. Naash has shown that nanoparticles, with their therapeutic genetic cargo, are readily absorbed by retinal cells after being injected into the eye.

As part of this latest round of funding, we are supporting her development of a treatment for USH2A, but Dr. Nash’s emerging technology could be used to deliver large corrective genes for a variety of retinal diseases. So, we are excited about the potential for her treatment to help a lot of people.

Now, if you happen to be going to the beach soon, remember to wear sunglasses, sunscreen and a wide-brimmed hat – to protect your skin and your eyes. While they make for fun cinema, shark attacks are the least of your beachgoing worries, especially if “swimming” means you only go up to your ankles, like me.

Illustrated above: nanoparticles (courtesy of the National Institutes of Health)

Well, yet another such miracle cure has come to my attention over the past few days. I have been receiving inquiries about an alleged stem cell “treatment” from a “consultancy group,” MD Stem Cells, which claims to provide access to a stem cell therapy that works for a range of retinal diseases. It also claims that seven people have been successfully treated.

So what is wrong with this picture? Where do I begin? After an exhaustive search, we have been unable to find any published data on clinical research for the treatment offered by MD Stem Cells. Likewise, we have found no description in the scientific literature of how the treatment offered by MD Stem Cells could work or any evidence of its resulting in a positive effect, save for the personal testimony of the seven people who say they have seen success with the treatment (whatever that means).

Perhaps most important, there doesn’t appear to be regulatory oversight for the therapy that we can find anywhere; there’s no FDA authorization for a clinical trial, and there’s no FDA approval making it available to the public. The so-called treatment is being delivered in Europe, and we do not know if any European regulatory agency has seen this protocol.

In other words, the treatment offered by MD Stem Cells is not based on any science or clinical experience we can find published anywhere and, as such, should be avoided.

So how do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. The company offering a treatment should have references to those publications on its website or mention it in its news release. And, most important, it should have documented FDA or equivalent regulatory agency oversight of its research and treatment.

Also, keep this in mind: The world of retinal degeneration research is finite. The Foundation funds many of the world’s top retinal doctors and researchers, and we have relationships with most of the companies involved in this arena. In other words, we have a broad and deep knowledge of what is happening in the world of research for retinal degenerations.  So, if you have a question about something you’ve heard about an alleged treatment, send it to info@FightBlindness.org, and we’ll get back to you with our thoughts on it.

For the record, there are only two FDA-authorized clinical studies underway of a stem cell treatment for retinal degenerative diseases. Both – one for Stargardt disease, the other for dry age-related macular degeneration – are being conducted by the company Advanced Cell Technology.

As the online article states, the keynote speaker was designer Andy Hilfiger (brother of Tommy), who was struck by the “loneliness and helplessness” he felt while eating dinner with 200 others in complete darkness for 30 minutes. Andy was asked to participate in the annual event by dinner co-chair Evan Mittman, who runs Cipriani, a fashion accessories business, and was diagnosed with a retinal disease a few decades ago. It’s great to know that people in these two high-profile professions are helping FFB raise funds for treatments and cures.

Photograph of Andy Hilfiger and his wife, Kim, by Zachary Baudoin Photography 

Now imagine that, sometime in adolescence or young adulthood, you notice you’re also having trouble with your vision. Maybe you bump into things more than you used to, or have trouble seeing in the dark. At first, you might think you just need glasses. But after a visit to the eye doctor, you discover you’re losing your vision to retinitis pigmentosa (RP).

This is often the sequence of events for people who have Usher syndrome, a genetic condition that leads to both hearing and vision loss. It’s the world’s leading cause of combined blindness and deafness, affecting as many as 400,000 people. While all retinal diseases are difficult, the one-two punch of Usher syndrome can be especially devastating. So halting and reversing its resulting vision loss is an important part of the Foundation’s mission.

That’s why I’m very excited to report that our partner Oxford BioMedica announced today the start of a clinical trial at Oregon Health & Science University for a gene therapy to treat Usher syndrome type 1B. Dr. Richard Weleber is leading the charge, and an article on the Foundation’s website provides details about the study and the condition.

Known as UshStat, the gene therapy is the first vision treatment specifically for Usher syndrome to move into a clinical, or human, trial. FFB funded years of lab research that made the study possible. I should also note that many of the RP projects and emerging treatments we fund — such as the drug TUDCA, which shows promise for preserving vision — may end up helping people with Usher syndrome.

The primary goal of the first phase of the UshStat trial is to evaluate safety, but Dr. Weleber and his team will also be looking at the treatment’s effect on vision. We’ll be sure to report initial results of the study as soon as we learn them.

People often ask me why Usher syndrome affects both hearing and vision. It all comes down to tiny tube-like structures called cilia, which work like a transport system, or conveyor belt, within retinal and inner-ear cells. Cilia move critical proteins and nutrients through the cells, a process that is necessary for their health and functioning. Usher syndrome is caused by genetic defects that ultimately lead to a breakdown in this transportation system, and, subsequently, hearing and vision are lost.

Defects in cilia-related genes are often a cause of other retinal diseases, such as RP and Leber congenital amaurosis, so they are, and will remain, an important area of research for us.