The California-based company Advanced Cell Technology is conducting clinical trials for patients with Stargardt disease and dry AMD.

The Foundation-hosted event brought together 150 venture capitalists, drug company representatives, researchers and people affected by retinal diseases.

Backed by a truly collaborative effort, each of the cutting-edge projects has the potential to eventually move into a clinical trial.

In a lab study, Foundation-funded researchers identified a potential way to help vision-saving treatments reach their intended destinations.

Gene therapies, stem cell treatments and vision-preserving plant extracts were among the subjects covered by participants in the Foundation’s annual TRAP meeting in Las Vegas.

Advanced Cell Technology’s therapy has been deemed safe thus far in nine people affected by Stargardt disease and four with dry AMD.

In the future, the technique could help determine changes in vision and the effects of treatments.

The Foundation is partnering with nine eye practices to observe the progression of the disease in 300 patients.

A Foundation-funded researcher finds initial success using a non-viral delivery system.

Aimed at providing treatments and identifying causes, the projects have the potential to help those with LCA, AMD, RP and Usher syndrome, among other diseases.

In the early stages of a study involving an animal model, small amounts of what is known as AAQ enabled subjects to respond to light.

Researchers found that the equivalent of one or two cigarettes’ worth can adversely affect otherwise healthy eyes.

More than 12,000 eye experts attended the Association for Research in Vision and Ophthalmology’s annual conference in Fort Lauderdale.

A recent study shows that, for some retinal diseases, the retina may have the potential to heal itself.

As more people are recruited for human studies, the demand for measuring the ways in which the eyes respond to treatments increases.

The start-up company MitoChem Therapeutics has identified three compounds that could benefit people affected by a variety of retinal diseases.

In pre-clinical studies, genes from algae are being used in a cutting-edge therapy known as ‘optogenetics.’

The safety results, drawn from the studies’ initial stages, are “very encouraging,” according to the Foundation’s chief research officer.

An international team of retinal researchers funded by the Foundation's TRAP program report excellent progress in moving their emerging treatments and cures – including gene therapies, stem cell treatments and pharmacological compounds – toward human studies.

If you could do one thing for a person losing their vision to a retinal disease, saving their cones would be near the top of the list. That’s because cones are the retinal cells that allow people to see color and fine detail, enabling them to drive, read and see the faces of loved ones.

July 28, 2011 - The Foundation Fighting Blindness has announced funding for nine new 3-year grants in support of a wide range of innovative retinal research projects including the development of: enhanced genetic screening strategies, new gene therapies, vision-preserving drugs, and advanced retinal imaging techniques.

July 20, 2011 - An innovative, targeted search technique known as whole-exome sequencing is dramatically reducing the time, effort and expense it takes to discover genetic defects that cause retinal disease. While the increasing raw power of genetic-screening technologies is continually accelerating the pace of gene discoveries, the whole-exome search strategy is a major leap forward.

June 22, 2011 — The first-ever gene therapy clinical trial for Stargardt disease, a juvenile form of macular degeneration, is underway at Oregon Health & Science University’s (OHSU) Casey Eye Institute in Portland. Peter Francis, M.D., Ph.D., the principal investigator for the Phase I/IIa study, reports that the trial’s first participant has received the treatment.

June 15, 2011 - The first-ever clinical trial of gene therapy for Stargardt disease, a juvenile form of macular degeneration, is now underway at Oregon Health & Science University (OHSU) in Portland.

June 2, 2011 - Back in November, when Advanced Cell Technology (ACT), a biotechnology company, got the OK from the U.S. Food and Drug Administration to move ahead with the first-ever human studies of retinal-disease treatments derived from human stem cells, it had yet to confirm study sites, which also needed internal approvals.

One reason it takes so long to develop a drug that serves as either a treatment or a cure for a specific disease is that it often takes researchers years, even decades, to screen the innumerable compounds that go into making the drug. Or at least it used to. These days, thanks to recent advances in computer, robotic and data-processing technologies, such tests can take only weeks, as long as researchers have the right resources, which can be very costly and difficult to access.

Foundation-funded researchers are developing an elegant approach to wiping out the toxic, vision-robbing molecules common to many retinal degenerative diseases. They hope to turn their emerging research into a cross-cutting treatment that has the potential to preserve vision in people with a broad range of retinal conditions.

A research team funded by the Foundation Fighting Blindness used an innovative repair technique to correct the disease-causing genetic defect in stem cells derived from a person’s skin — stem cells that hold the potential to treat their retinal degenerative condition.

A research team from Kobe, Japan has taken a major step forward in developing a functional retina from embryonic stem cells.

Advanced Cell Technology (ACT) has received authorization from the FDA to begin the first-ever human study of a retinal degenerative disease treatment derived from human stem cells. The Phase I/II clinical trial will evaluate the treatment in people with Stargardt disease, a juvenile form of macular degeneration that causes progressive, devastating vision loss.

On August 23, national media began focusing much attention on embryonic stem cells, because a judge from the U.S. District Court in Washington, D.C. issued a preliminary injunction banning federal funding for virtually all embryonic stem cell research.

An international research team, funded in part by the Foundation Fighting Blindness, has used gene therapy to reactivate retinal cells that were previously unresponsive to light. The treatment was delivered to cones, the retinal cells that provide central and daytime vision. Investigators evaluated the gene therapy in two mouse models of retinal degenerative disease, as well as cultures of human retinal tissue. Using a variety of tests, the researchers demonstrated that the treated cells restored functional vision, and that the restoration of vision persisted over a long period of time.

For many years, people with retinal degenerative diseases such as retinitis pigmentosa (RP), Usher syndrome, and Stargardt disease have been frequently told by their eye care professionals that “there’s nothing we can do.”

Researchers funded by the Foundation Fighting Blindness are moving promising treatments and cures into human studies, and in the not-too-distant future, there are likely to be therapies that will enable eye care professionals to better treat many retinal degenerative diseases.

If you have an inherited retinal degenerative condition such as retinitis pigmentosa, Usher syndrome or Stargardt disease, should you get genetically tested? Is there a benefit in trying to determine the genetic variation that is causing your condition?

October 18, 2011 - Blindness and visual impairment affect more people than you might realize; in fact, one out of every 28 Americans over the age of 40 suffers from some form of blindness. While retinal degenerative diseases cause vision loss in over 10 million Americans, it’s important that we remember that many millions more suffer blindness from other causes.

The National Neurovision Research Institute (NNRI), the Foundation Fighting Blindness’ clinical trial support organization, announced today that one of its key partners, biopharmaceutical company Oxford BioMedica, has established a collaboration with sanofi-aventis, a major international pharmaceutical company, to develop and commercialize gene therapy treatments for vision-robbing retinal degenerative diseases that affect tens of millions of people around the world.

The Foundation Fighting Blindness has appointed four new national trustees to further advance the organization’s fundraising, organizational development, and volunteer recruitment efforts.

Highlights from the 2009 Day of Science Meeting Hosted by the Foundation Fighting Blindness

Dr. Al Maguire captivated the Day of Science audience when he played a video of an eight-year-old boy, who after being treated with a landmark gene therapy, was able to quickly navigate an obstacle course he was previously unable to follow. The audience erupted in loud applause when Dr. Maguire added, “That boy has put away his blind cane and is now enrolled in a mainstream school.”

Sirion Therapeutics Developing Promising Treatments for Retinal Diseases

Sirion Therapeutics, a biopharmaceutical company based in Tampa, Florida, has three promising drugs for the treatment of retinal degenerative diseases in its development pipeline. Two are oral medications that may provide treatment for retinal diseases that are caused by the accumulation of toxic deposits in the retina, such as dry agerelated macular degeneration (AMD), Stargardt disease, and Best disease.

Gene Therapy Shows Promise for Curing Day Blindness

A new advance in gene therapy is providing hope for people with a debilitating retinal disease known as achromatopsia or day blindness. Researchers from the University of Pennsylvania have used gene therapy to successfully treat dogs with the same condition.

After extensive deliberation and discussion of existing and recent new data, members of the FFB's Scientific Advisory Board and outside experts recommend that people with recessive Stargardt disease or cone-rod dystrophy, most of which are caused by mutations in the ABCA4 gene, should avoid intake of vitamin A beyond the recommended daily allowance (RDA). The recommendation comes as a result of research indicating that excess consumption of vitamin A can potentially accelerate vision loss and retinal degeneration in people with recessive Stargardt disease, cone-rod dystrophy, and other retinal conditions caused by variations in the ABCA4 gene. As you will read in the official position paper if you do not know the identity of the gene causing your Stargardt disease or cone-rod dystrophy, please consult with your ophthalmologist and/or genetic counselor about obtaining genetic testing. This recommendation does not have any bearing on typical Retinitis Pigmentosa.

Three young adults with Leber congenital amaurosis (LCA) receiving gene therapy in a Phase I clinical study at the University of Florida and University of Pennsylvania demonstrated improved vision in brightly and dimly lit settings. The gene therapy was also shown to be safe for all three participants, who were ages 21-24.

Initial results of the study were published today in an online edition of the journal Human Gene Therapy. Additional findings from the study will be published shortly in the Proceedings of the National Academy of Sciences.

Two of the world’s top retinal researchers came to Capitol Hill on June 24 to educate congressional staff about their landmark clinical trial in which they used gene therapy to restore some vision in three young adults who were virtually blind from a severe form of retinitis pigmentosa known as Leber congenital amaurosis (LCA). Seventy people attended the briefing, which was hosted by the Alliance for Eye and Vision Research and the Foundation Fighting Blindness.

For people with the most advanced retinal degenerative disease - those who are blind or have only light perception - artificial retinas are providing promise for restored vision.

Second Sight® Medical Products is now conducting a Phase II human study of its second-generation artificial retina - the Argus II - in clinical centers in the U.S., Mexico, and Europe (England, France, and Switzerland).

Three young adults with virtually no vision can now read several lines on an eye chart and see better in dimly lit settings thanks to an innovative gene therapy aiming to reverse blindness in a severe form of retinitis pigmentosa known as Leber congenital amaurosis or LCA. One person was even able to better navigate an obstacle course several weeks after receiving the therapy.

In 2005, French researchers José Sahel, M.D., and Thierry Léveillard, Ph.D., won the Foundation’s Annual Trustee Award for the most promising advance of the year: Identifying a protein that shows great potential for preserving vision in people affected by a variety of retinal degenerative diseases. Sahel and Léveillard, both with the Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts in Paris, are now part of a new FFB-funded research center chartered with moving this promising protein into clinical trials.

An international team of investigators found that a toxic substance called A2E, which is believed to cause vision loss in people with Stargardt disease and age-related macular degeneration (AMD), may also be the vision-robbing culprit in Best disease.

Shortly after Alan Brint was born in 1997, his parents David and Betsy realized that his vision was not right. They were devastated to learn from retinal experts that young Alan was nearly blind because of a genetic disease called Leber congenital amaurosis (LCA). “It’s every parents’ worst nightmare,” says David, “to find out that something is tremendously wrong with your child. Blindness never even occured to us until the doctor said, “Your child is blind and there is nothing we can do at this time.”

On April 6, 2007, the Foundation Fighting Blindness convened 17 of the world’s top Stargardt disease researchers to accelerate the advancement of emerging treatments into clinical trials.

An FFB-funded research team from the University of Wisconsin and the University of Utah used human neural stem cells — cells derived from the brain — to rescue vision in a rodent model of retinal degenerative disease.

Children born blind from a devastating retinal condition called Leber congenital amaurosis (LCA) may soon be able to see thanks to an innovative gene replacement therapy that has just moved into a clinical trial.

The umbilical cord is not only the lifeline for a developing baby, but it might also save sight for people affected by a variety of retinal degenerative diseases.

Dr. Matthew LaVail was awarded the Llura Liggett Gund Award—the most prestigious honor awarded by The Foundation Fighting Blindness (FFB)—for lifetime achievement in retinal disease research.

A 10-person evaluation of the Artificial Silicon Retina (ASR) microchip, developed by Optobionics (Naperville, Illinois), is being expanded to 20 patients at three sites: Johns Hopkins School of Medicine (Wilmer Eye Institute), Emory University School of Medicine/Atlanta Veterans Administration Medical Center, and Rush University Medical Center.

Ed Stone, Val Sheffield, Tom Casavant, and their colleagues at the University of Iowa’s Center for Macular Degeneration and Allied Retinal Diseases see no reason why there shouldn’t be cost-effective, efficient, and accurate genetic testing available for every person who has an inherited retinal degenerative disease (RDD). They’re certain that more and better treatments will be attainable, if genetic testing — and the information gleaned from it — is more accessible to researchers, ophthalmologists, and patients. With support from The Foundation Fighting Blindness and other organizations, they are well poised to make this plan for ubiquitous testing a reality.