The orphan designation was the result of the Orphan Drug Act of 1983, which facilitates the development of treatments for diseases affecting fewer than 200,000 people in the United States. Congress passed the act because markets are small for rare conditions, and companies are often not motivated to develop therapies for them.

Orphan status is granted by the U.S. Food and Drug Administration. The European Medicines Agency provides similar benefits for rare-disease therapies being developed in Europe.

Most emerging therapies in clinical trials for inherited retinal diseases have received orphan status, including Oxford BioMedica’s gene therapies for Stargardt disease and Usher syndrome type 1B and Advanced Cell Technology’s stem cell treatment for Stargardt disease.

I am always quick to point out the irony that rare diseases aren’t all that rare. As I mentioned in a blog post on Rare Disease Day — February 29, 2102 — there are more than 7,000 rare diseases, and one in 10 Americans is affected by one. Chances are that you or someone you know is affected by a rare disease, and will someday benefit from orphan-designated therapies.

Photo courtesy of the National Eye Institute

I am always excited when a new research paper comes across my desk reporting on an emerging treatment that has saved or restored vision in an animal or cell-based model of retinal disease. The advancement provides meaningful hope for a therapy that can benefit people. But it raises a big question for the Foundation Fighting Blindness: What will it take to move the treatment into and through human studies?

Moving a potential vision-saving treatment out of the laboratory and into a clinical trial – which, in the United States, must be authorized by the U.S. Food and Drug Administration (FDA) – is a risky and costly proposition. While it can cost hundreds of thousands of dollars to demonstrate that a potential treatment works in an initial rodent or other model of retinal disease, it costs millions to “translate” it into a human study. And even when the investment is made, it may not yield the return of an FDA-approved therapy.

Why is translational research so expensive?

Ensuring safety is a big reason. A therapy must be carefully evaluated in additional animal and/or cell-based models to show that it causes no adverse problems – for example, triggering an immune reaction or having a toxic effect. Also, because the human eye is much bigger than a mouse eye, researchers need to demonstrate that they can get a therapeutic dose of the treatment to the retina through eye drops or orally. The latter exposes the rest of the body to potential systemic side effects.

In addition, researchers must produce a treatment that follows “good manufacturing practices,” or GMP, to ensure that it is sterile and safe, and that each dose consistently delivers the same concentration of drug or biological therapy.

And finally, for the clinical trial itself, there is the recruitment of patients, the selection of clinical researchers and trial sites and the determination of the protocol to be followed with outcome measures that define success. All of these efforts and decisions must be documented meticulously to gain authorization from the FDA in the United States or equivalent agencies abroad to launch a human study.

Perhaps the most sobering aspect of translational research is that, even if all of the above are done correctly, there is no guarantee that the proposed therapy will ultimately save or restore vision in humans. In fact, most potential treatments won’t make it through the clinical trial process.

Because large pharmaceutical companies and therapy developers are often reluctant to take on the significant risk and expense of the translational process, many potential therapies stall in what the drug industry refers to as “The Valley of Death.”

While the reality of translational research can seem overwhelming, the Foundation Fighting Blindness is taking the challenge head-on through its Translational Research Acceleration Program (TRAP). By advancing therapies into early-stage clinical trials, the program is also “de-risking” the treatment development process to attract for-profit and venture capital investments. The good news: Some TRAP projects are already doing just that.

The program was established by Gordon Gund, co-founder and chairman of the Foundation, along with other key research investors, who recognize that the focus on translation is imperative to get vision-saving therapies out to the millions who need them.

Launched in 2008, the program is investing $20 million annually in moving promising gene therapies, stem cell treatments and pharmaceuticals through late-stage lab studies and into clinical trials. TRAP also supports projects for genetic testing, the discovery of new disease-causing genes and imaging studies to better understand retinal disease processes and treatment effectiveness.

It is important to note that while some TRAP projects target specific diseases, several of the efforts have the potential to benefit people affected by a wide range of conditions and independent of the genetic defect causing vision loss.

Fifteen projects are currently funded by TRAP. I encourage you to read more about them in this recent article on the Foundation’s website. As you will see, many are designed to move emerging therapies into clinic trials with the next two to four years.

With that in mind, I would also ask you to consider donating to FFB’s “Light the Way to a Cure” holiday fundraising campaign, where every dollar you donate through December 31 will be matched. Your money will go toward projects with strong sight-saving potential.

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

But for a moment, as we put the wraps on 2012, it is very inspiring to look back on the past year and reflect on the many exciting advancements that have been made in our quest for treatments and cures.

Thanks to the scientific community and everyone else working to bring an end to retinal diseases, our strides have been incredible. Thanks to our success, we have more momentum than ever before as we move into 2013.

Here is my alphabetical list of the Top 12 Retinal Research Advances for 2012:

1.  Argus II “Bionic Retina” Receives Recommendation for FDA Approval 
2. Choroideremia, RP Gene Therapies Perform Well in Early Clinical Trials 
3. Foundation Commits $2 Million to Develop MitoChem’s Cross-Cutting Drug 
4. Gene Therapies for Stargardt Disease and Wet AMD Safe Thus Far in Clinical Trials 
5. Omega-3 Rich Diet Combined with Vitamin A Slows Visual Acuity Decline in RP 
6. Patients’ Skin Cells Help Researchers Move Closer to Treatments for Best Disease 
7. Positive Results for Second Eyes Treatment in LCA Gene Therapy Clinical Trial 
8. ProgStar: Natural History Study for Stargardt Disease to Help Prepare for Clinical Trials 
9. QLT’s Drug for RP and LCA Performs Well in Clinical Trials 
10. StemCells, Inc. Launches Clinical Trial for Dry AMD 
11. Two Participants in ACT’s Stem Cell Clinical Trial Show Improved Vision 
12. Usher Syndrome Gene Therapy Clinical Trial Begins, Safe Thus Far in Three Patients

I would be remiss if I didn’t mention that these amazing advancements were made possible by donations from charitable individuals and organizations focused on finding treatments and cures for blinding diseases. In the spirit of the holidays, and as part of our end-of-year “Light the Way to a Cure” campaign, an FFB benefactor is matching every dollar donated to the Foundation during the month of December. Your support — this month in particular — will help to ensure that we have a similar list of accomplishments to report this time next year. I wish you a safe and joyful holiday season, and I look forward to working with everyone associated with the Foundation to make 2013 an even brighter year in our drive for sight-saving treatments and cures.

All of the following, I might add, are being funded by the Foundation or were made possible by Foundation-funded preclinical research. I’ve categorized the trials by types of treatments and included links to articles or posts describing them in detail. Appended to each is the name of the company, facility or agency conducting and/or hosting the trial.

Gene Therapies

• Stargardt disease gene therapy — Oxford BioMedica
• Usher syndrome type 1B gene therapy — Oxford BioMedica
• Wet age related macular degeneration (AMD) gene therapy — Oxford BioMedica
• Wet AMD gene therapy — Genzyme
• Wet AMD gene therapy — Avalanche
• Choroideremia gene therapy — University of Oxford
• Retinitis pigmentosa (RP, MERTK) gene therapy — UCSD-King Khaled Eye Hospital
• Leber congenital amaurosis (LCA, RPE65) gene therapy — Children’s Hospital of Philadelphia
• Leber congenital amaurosis (LCA, RPE65) gene therapy — Universities of Pennsylvania and Florida

Cell-Based Therapies

• Stargardt disease treatment (RPE cells derived from stem cells) — Advanced Cell Technology
• Dry AMD treatment (RPE cells derived from stem cells) — Advanced Cell Technology
• RP and Usher syndrome (imaging study, encapsulated cell technology) — Neurotech
• Achromatopsia treatment (encapsulated cell technology) — National Eye Institute

Pharmaceuticals and Supplements

• Retinitis pigmentosa (autosomal dominant), valproic acid — FFB Clinical Research Institute
• LCA and RP (LRAT and RPE65), retinoid replacement — QLT
• X-Linked RP, DHA supplementation — Retina Foundation of the Southwest

Some Important Comments

This list doesn’t include every human study for a retinal degeneration. For example, there are four additional LCA-RPE65 gene therapy clinical trials that I didn’t include. There are several studies for age-related macular degeneration pharmaceuticals that are not on the list. I also didn’t include a few studies underway for artificial (a.k.a. “bionic”) retinas.

What is most impressive to me about the list is that nearly eight years ago, when I joined the Foundation, virtually none of these studies were underway. We’ve come a long way in that time. I expect this list to grow substantially in the next eight years, with some of the abovementioned emerging treatments gaining FDA approval.

Stay tuned and thanks for your interest in and/or support of sight-saving research.

Every year, Cantor honors the more than 600 employees it lost in the terrorist attacks by donating all commissions made from trades on September 11 to more than 100 charities—including, this year, the Foundation.

April closes a deal with help from a Cantor trader on Charity Day. Revenues earned from trades on September 11 were donated to various charities, including the Foundation. (Photo courtesy of Getty Images.)

This past year, I was crowned Mrs. World, and before that Mrs. America. Although I’d participated in beauty pageants in my twenties, when I was single, I re-entered the competition as a wife and mother a few years ago with two goals in mind: 1) raise awareness about retinal diseases; and 2) help the Foundation raise funds for research that will treat and, one day, cure them.

I have a mild case of retinitis pigmentosa, or RP, which limits my vision. And my two children—Brandon, 13, and Savannah, 8—are also impacted by the disease. Even with corrective lenses, they have trouble seeing at night, and their peripheral vision is affected. Earning the titles of Mrs. America and Mrs. World helped me become a spokesperson for the Foundation, which is focused on improving the lives of my children and more than 10 million other Americans affected by retinal diseases.

Charity Day—a big success, raising more than $12 million between Cantor Fitzgerald and its affiliate, BGC Partners—was the first of a string of events I’ll attend for the Foundation this fall. In particular, I’m really excited about October, because it’s been set aside by the Foundation as Save Your Vision Month.

All 31 days will be dedicated to uniting and empowering the retinal disease community, largely through social-media activity. For details, you can visit this web page, to find out how to help us educate, engage and inspire people across the nation.

April and Mrs. New York, Leah Bartos, flank actor Steve Buscemi, a fellow celebrity ambassador, at Cantor Fitzgerald.

It’s only fitting that I began the fall season with Charity Day. It was a lot of fun, and the folks at Cantor treated all of us as if we were all A-list celebrities. But as I watched the traders working hard, and donating their earnings to charities, I couldn’t help but think of the Foundation itself. Cantor has taken what was a truly tragic day and turned it into an event that will benefit the less fortunate for decades to come. It reminded me just how resilient and powerful people can be.

The same can be said for the Foundation. In 40 years, it’s raised half a billion dollars for cutting-edge research which, right now, is being tested in clinical trials for treatments around the world. A lot more work has to be done, but a revolution to save and restore vision is truly underway. With my children always in my thoughts, I can’t think of a better cause to get behind.

Pictured, top of page: Mrs. World, April Lufriu, poses with Michael J. Fox at Cantor Fitzgerald on Charity Day. Fox was there representing the Michael J. Fox Foundation.