Oxford BioMedica announced that it has voluntarily paused participant recruitment for its gene therapy clinical trials  for wet AMD, Stargardt disease and Usher 1b.

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.

Made possible by lab research funded by the Foundation, the treatment is one of three performing well in trials conducted by the British company Oxford BioMedica.

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

A team of researchers from the United States and Pakistan discovered a mutation that stifles the production of a vital protein.

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.

European participants with visual and hearing impairments will now take part in a study that began earlier this year.

Although found in the Amish population of Pennsylvania, mutations in the gene could be present in other parts of the world.

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 report in an ophthalmology journal highlights a surprising, and sometimes unsettling, experience for people who have lost their vision.

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

Oxford BioMedica, a Foundation partner and developer of two other treatments for retinal diseases, will soon treat patients who have both vision and hearing loss.

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.’

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.

A clinical trial of UshStat®, the first-ever gene therapy for Usher syndrome type 1B, is on track to begin by the end of 2011, thanks to the FDA’s approval of the Investigative New Drug application submitted by Oxford BioMedica, the developer of the treatment.

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.

August 25, 2011 - Researchers from the University of Utah have used gene therapy to correct the disease-causing genetic defect in the retinas of mice with Usher syndrome type 2D (USH 2D), a form of the leading cause of combined deafness and blindness in humans. While more laboratory work needs to be done, the advancement is an important step toward moving the treatment into a clinical trial.

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.

August 10, 2011 - In every cell in our body, DNA is sending messages, known as messenger RNA (mRNA), which tell our cells what proteins to make. Proteins are essential building blocks that provide our cells with structure and strength, regulate and protect our bodies’ chemistry, and facilitate the transport of oxygen and other essential substance. Proteins are also essential to the health of our photoreceptors—the light-sensing cells in the retina—and the biochemical process that makes vision possible. Hence, it is critical that the messages transmitted by our DNA are translated correctly, so that the right proteins are made.

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.

Thanks to accelerating advances in computing power and lab instruments, discovering the genetic defect that causes a person’s retinal degenerative disease is continually getting quicker and less expensive.

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.

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.

Dr. John Flannery, a Foundation-funded researcher, recently restored some visual ability in mice with retinitis pigmentosa by injecting a gene therapy that helps make up for the loss of photoreceptors.

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.

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.”

Usher syndrome research highlighted at congressional briefing

Imagine trying to live with the challenges of combined deafness and blindness, and at the same time, being unseen and unheard by society. That’s the unfortunate irony for the 45,000 Americans with Usher syndrome, a devastating inherited disease that robs people of their vision and their hearing.

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.

In a pioneering study at the University of Washington, FFB-funded researchers discovered a way to prod retinal cells to regenerate after injury. If perfected, the approach could be used to restore retinal tissue, and vision, for people with a variety of retinal degenerative diseases including retinitis pigmentosa and macular degeneration.

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.

John Flannery, Ph.D., University of California, Berkeley, and David Williams, Ph.D., University of California, San Diego presented updates on their FFB-funded work on emerging gene therapies for Usher syndrome.

Flannery began his discussion by giving participants a general overview of Usher syndrome. He explained that there are three types of Usher syndrome, and each is characterized by different degrees and progressions of vision and hearing loss, as well as problems with balance. Also, each type is divided into subtypes based on the disease-causing gene.

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.

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.”

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.

Foundation-funded researchers have developed a mouse model of Usher syndrome type 2A (Usher 2A) that provides experts with better targets for treatments and a better platform for preclinical testing of potential therapies.

The laboratories of David S. Williams, Ph.D., University of California at San Diego, and Xian-Jie Yang, University of California at Los Angeles, have successfully used gene therapy to treat mice with the same genetic defect that causes Usher syndrome 1B (Usher 1B) in humans.

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.