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.

One of the key benefits of iPSC is that, like embryonic stem cells, they can become any type of cell in the body, and be easily replicated to make large quantities of cells for therapeutic purposes. However, because the donor is the source of the transplanted cells, there is less chance of rejection.

Though I don’t know all the details of the study, the RIKEN treatment sounds similar, in some respects, to the treatment developed by Advanced Cell Technology (ACT) now in clinical studies for dry AMD and Stargardt disease. While each group’s approach involves transplanting retinal pigment epithelial (RPE) cells into patients’ retinas, RIKEN will derive its treatment from iPSC. ACT, on the other hand, develops RPE cells from embryonic stem cells.

Though we currently have more research experience with embryonic stem cells, iPSC offers the important advantages I just mentioned. And there’s nothing like a clinical trial to see how well they might really work.

The Foundation funds both iPSC and embryonic stem cell research because we don’t know which option will be best. It may be the case that both alternatives will have their own unique advantages in different diseases or stages of degeneration.

Pictured above: Rod cells derived from iPSC at the RIKEN labs.

• Dr. Matthew Vincent, Director of Corporate Development, Advanced Cell Technology (ACT). His company has clinical trials underway for a stem cell treatment for Stargardt disease and dry age-related macular degeneration.

• Dr. David Wilson, who is leading Oxford BioMedica’s StarGen (gene therapy for Stargardt disease) clinical trial at Oregon Health & Science University

• Dr. David Saperstein, representing QLT, Inc., which is conducting an international clinical trial of a drug for certain forms of retinitis pigmentosa (RP) and Leber congenital amaurosis (RPE65 and LRAT mutations)

Not only will they provide the latest updates on their human studies; they’ll also discuss how therapies will likely be used synergistically in the future.

For example, if you are a person with moderate to advanced RP, the ideal solution might be a gene therapy to halt the disease in your existing retinal cells coupled with stem cells to replace the rods and cones you’ve lost.

Or consider this example: Let’s say you have RP and are taking vitamin A to slow the progress of vision loss and a drug becomes available that also slows vision loss. Does that mean you stop taking vitamin A? Maybe not — it depends on if and how the new treatment and vitamin A can work together. (By the way, Dr. Eliot Berson will talk about vitamin A, lutein, and oily fish at the 3:45 p.m. session on Friday, June 30.)

A third example: We are getting closer to the day when your skin or blood may be your own source of stem cells. That magic is done through a process called inducing pluripotent stem cells, and gene therapy may be used to correct the genetic defect so the cells are disease-free when they are put into your retina.

Of course, combination therapies are a ways off, but this closing session will underscore why it is important to consider multiple treatments and not just one approach to saving your vision. I am sure the discussions will be lively and informative.

So, I hope to see you in Minneapolis. If you’re planning to go, make sure you stick around for the grand finale on Sunday.

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