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FFB-CRI Launching Natural History Study for People with USH2A Mutations

USH2A is a target for retinal-disease researchers, because mutations in the gene are the most common cause of Usher syndrome type 2, which causes combined vision loss from retinitis pigmentosa (RP) and hearing loss from inner ear dysfunction. Also, USH2A mutations are a leading cause of RP without hearing loss (i.e., non-syndromic).

A major challenge in providing prognoses for USH2A patients — and designing clinical trials for potential therapies — is the wide variability in the severity and rate of progression of the disease and its symptoms. Researchers have identified hundreds of USH2A mutations — misspellings in the patients’ genetic code. Some of these defects lead to RP only. Others cause Usher syndrome.
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Dr. Eliot Berson, Pioneer in Vitamin A Therapy for Retinitis Pigmentosa, Passes Away

No one in the retinal disease research community brought more passion and commitment to his or her work than Dr. Eliot Berson. As The William F. Chatlos Professor of Ophthalmology at Harvard Medical School, he dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades. In addition to being a world-renowned clinical researcher and developer of vitamin A therapy for retinitis pigmentosa, he was beloved by his patients and their families for his hopeful and encouraging attitude toward their challenging, vision-robbing conditions.
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First Patient Treated in XLRP Gene Therapy Clinical Trial

The surgical team prepares to inject the virus into the back of the eye of the patient A 29-year-old British man is the first person to be treated in a gene therapy clinical trial for X-linked retinitis pigmentosa (XLRP). Robert MacLaren, MD, the lead investigator for the trial taking place at the Oxford Eye Hospital in the United Kingdom, says the patient is doing well and has gone home. The trial is being run by Nightstar, a biopharmaceutical company in the U.K. developing therapies for inherited retinal diseases. As many as 24 patients will be enrolled in the 12-month trial.

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Unregulated Stem-Cell Therapy Causes Severe Vision Loss for Three Florida Women

A report today in The New England Journal of Medicine (NEJM) describes the cases of three women with age-related macular degeneration (AMD) who lost much of their eyesight after receiving ocular injections of stem cells derived from their own fat tissue. All of the women had good enough eyesight to drive before the procedures. Each paid $5,000 to receive the injections from a private clinic in Sunrise, Florida. The New York Times and other major media outlets have published news stories on the NEJM report.
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FFB Convenes Experts to Discuss Therapeutic Opportunities for Stargardt Disease

Meeting presenters (left to right): Philip Rosenfeld, MD, PhD; Ilyas Washington, PhD; Peter Charbel Issa, MD, PhD; Elias Traboulsi, MD, MEd; Ulrich Schraermeyer, PhD; Carel Hoyng, PhD; Paul Bernstein, MD, PhD; SriniVas Sadda, MD; Krzysztof Palczewski, PhD; Janet Sparrow, PhD; Artur Cideciyan, PhD; Hendrik Scholl, MD; Patricia Zilliox, PhD (not pictured)

Meeting presenters (left to right): Philip Rosenfeld, MD, PhD; Ilyas Washington, PhD; Peter Charbel Issa, MD, PhD; Elias Traboulsi, MD, MEd; Ulrich Schraermeyer, PhD; Carel Hoyng, PhD; Paul Bernstein, MD, PhD; SriniVas Sadda, MD; Krzysztof Palczewski, PhD; Janet Sparrow, PhD; Artur Cideciyan, PhD; Hendrik Scholl, MD; Patricia Zilliox, PhD (not pictured)

Stargardt disease is the world’s leading cause of inherited macular degeneration, affecting 30,000 people in the United States alone. It is also a challenging condition to understand and treat. While Stargardt disease often causes severe loss of central eyesight, its effect on vision and the retina can vary widely from patient to patient. The disease usually strikes in childhood or adolescence, but there are forms that cause significant vision loss much later in life. Also, a patient’s vision can remain stable for many years before a relatively sudden, steep decline occurs.

The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) convened 70 of the world’s top Stargardt disease research experts in Cleveland, Ohio, on February 17, 2017, to discuss these challenges and the current state of therapy development. Much of the information and data shared during the meeting came out of ProgSTAR, the FFB-CRI-funded natural history study of 365 Stargardt disease patients.
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AGTC Leverages Funding from the Foundation to Move Promising Treatments into Clinical Trials

Seed becoming a plantCompany Builds on FFB’s Initial Investment to Garner $265 Million in Therapy Development Funding

In the early 1990s, scientists began discovering the genetic defects causing blinding, inherited retinal diseases and saw a unique opportunity to overcome them. They envisioned gene therapy — delivering healthy genes to the retina to replace the bad ones — as an elegant approach to saving and restoring vision. Furthermore, a single injection of gene therapy would likely halt or reverse the disease process and work effectively for several years, perhaps the patients’ lifetimes.

The Foundation Fighting Blindness, the world’s leading private, nonprofit retinal research organization, funded most of these genetic discoveries for retinal diseases and immediately recognized the enormous opportunity for gene therapy to beat blindness.
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Foundation Investing in Drug to Slow Many Forms of RP

Sometimes, fighting blindness means helping people save the vision they have, or at least slowing disease progression enough so they can maintain useful vision for all of their lives.

That’s the idea behind a promising, emerging drug for retinitis pigmentosa (RP) known as N-acetylcysteine-amide (NACA). The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has announced an investment of up to $7.5 million to advance the potential therapy into and through a Phase II clinical trial. In several animal models, including previous FFB-funded lab studies of rodent models at Johns Hopkins University, NACA slowed retinal degeneration.

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FFB-CRI Leads Effort to Identify Outcome Measures for Therapies in Clinical Trials

Side view of a retina as captured by SD-OCT. The EZ Width is the yellow line extending between the arrows. The patient has advanced RP with significant loss of peripheral vision.

A key to gaining regulatory approval for an emerging retinal-disease therapy is quickly and accurately demonstrating that it saves or restores vision in a clinical trial. Though the goal sounds simple enough, proving that a potential treatment is working is actually difficult. That’s because commonly used measures of visual function — including visual acuity and visual fields — are not always reliable for evaluating vision changes in many people with inherited retinal conditions.

For example, visual acuity can remain stable for someone with retinitis pigmentosa (RP) for decades. While visual fields for people with RP contract over time, measuring the changes objectively is challenging; results for a given patient can vary significantly, even for the same patient on the same day.
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A Change in Identity Might Someday Save Vision

retina

No, people with inherited retinal diseases don’t have to adopt new names or personas, or go into witness protection programs, to save their vision. But by changing the identity of cells in the retina — namely rods — researchers may someday be able to slow or halt vision loss for those with retinitis pigmentosa (RP) and other related conditions.

While the innovative therapeutic approach is not ready to be tested in humans, a research team led by Tom Reh, PhD, University of Washington, and Sheng Ding, PhD, University of California, San Francisco, accomplished the feat in mice with RP. The investigators treated rods in the mice with a compound known as photoregulin1 (PR1) that blocked a gene involved in rod development called Nr2e3. That, in turn, reduced the expression (activity) of other rod-associated genes, making the rods less rod-like and more like cones. Doing so stopped retinal degeneration, preserving both rods and cones. Rods and cones are important, because they’re the cells that make vision possible. Results of the PR1 study were published online in the journal Investigative Ophthalmology & Visual Science.

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Foundation 2016 annual report highlights significant research progress

The Foundation Fighting Blindness annual report, released this week, details another groundbreaking year in which Foundation-funded studies made great strides across the continuum of research that will one day cure blindness caused by retinal degenerative disease. That work included harnessing the power of gene and stem-cell therapies, partnering with pharmaceutical companies to develop new drug treatments, and working across the retinal science community to create clinical trial endpoints that will strengthen and speed the all-important clinical trials process.

You can read the full report at:

AnnualReportBox