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Archive for the Diseases Category

FFB-CRI Investing $7.5 Million in Emerging Therapy for USH2A

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The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has entered into a partnership with ProQR to develop a retinal therapy for people with Usher syndrome type 2A (USH2A) caused by mutations in exon 13 of the USH2A gene. FFB-CRI will be investing up to $7.5 million in milestone-based funding to advance the treatment, known as QR-421a, toward a Phase 1/2 clinical trial during 2018. ProQR plans to issue the initial data report for the clinical study in 2019.
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AGTC Launches XLRP Gene Therapy Clinical Trial at Five Sites in U.S.

Audio version:
Applied Genetic Technologies Corporation (AGTC) is now recruiting for its Phase 1/2 gene therapy clinical trial for males with X-linked retinitis pigmentosa (XLRP) caused by mutations in the gene RPGR. Approximately 15 patients will be enrolled in the study, which is primarily evaluating safety. Three doses of the gene therapy will be tested. The trial is taking place at five sites in the U.S.
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Ophthotech Launching Human Study of Emerging Therapy for Stargardt Disease

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Ophthotech, a biopharmaceutical company developing therapies for eye diseases, has enrolled the first patient in its Phase 2b clinical trial of Zimura® for people with Stargardt disease caused by mutations in the gene ABCA4. The 120-participant study will be taking place at more than 30 sites. Data and knowledge gleaned from ProgStar, a natural history study for people with Stargardt disease funded by the Foundation Fighting Blindness, was used in the design of the clinical trial.
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Top Retinal Research Advances for 2017

To view and listen to Ben Shaberman’s presentation of “Top Retinal Research Advances for 2017,” with full slides and audio, click here. The text to the presentation is as follows:

This is Ben Shaberman, director of science communications, at the Foundation Fighting Blindness (FFB), and I’m pleased to present a quick overview of some of the exciting research advances for inherited retinal diseases made during 2017. It has been an exciting year with several promising therapies moving into and through clinical trials.
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jCyte Reports Results for Phase 1/2a Clinical Trial for Retinal-Cell Treatment

jcyteA retinal-cell treatment for people with retinitis pigmentosa (RP) has performed encouragingly in a Phase 1/2a clinical trial. Developed by jCyte, the treatment was evaluated for 12 months in 28 people at two sites in Southern California.

Side effects were minor in the safety-oriented trial. Those receiving the highest dose of the treatment had the best results. Their visual acuity, as measured using an eye chart, was nearly two lines (nine letters) better in their treated eye than in their untreated eye. Some participants reported increased light sensitivity, improved color vision, better mobility, and improved reading ability. Ultimately, 22 of the 28 participants had their second eye treated. Continue Reading…

History Is Made: FDA Approves Spark’s Vision-Restoring Gene Therapy

Spark LogoSpark Therapeutics’ vision-restoring RPE65 gene therapy has received marketing approval from the U.S. Food and Drug Administration, becoming the first gene therapy to gain regulatory approval in the U.S. for the eye or any inherited condition.

Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65. Study participants with severe vision loss reported putting away their navigational canes, seeing stars, being able to read, and recognizing faces of loved ones. Vision restoration has persisted for at least three years. The treatment is also designed to work for people with retinitis pigmentosa (RP) caused by RPE65 mutations. Continue Reading…

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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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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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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Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance

Stephen Daiger, Ph.D. and colleague Lori Sullivan, Ph.D.Inherited retinal diseases are difficult to understand merely because they’re so rare and diverse. More than 250 genes, when mutated, can cause them, yet collectively, they affect only 200,000 people in the United States.

Their widely varying impact on vision adds to the challenge. For example, the youngest sibling in a family may be nearly blind from retinitis pigmentosa (RP), while his or her older brother or sister with the same RP gene mutation can have near normal vision.

But as FFB-funded retinal geneticist Stephen Daiger, Ph.D., discussed at the RD2016 meeting in Kyoto, Japan, the complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging. Dr. Daiger was one of nearly 300 retinal researchers who gathered September 19-24, 2016, for the world’s largest conference focused exclusively on retinal degenerative diseases. The conference was supported in-part by FFB.
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