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Archive for the Research Category

Best Disease Gene Therapy Advances Toward Clinical Trial

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BEST1-Untreated cBest patho MCT1-E66

Untreated retina

BEST1-treated MCT1-E66

Retina treated with gene therapy

Using gene therapy, FFB-funded researchers at the University of Pennsylvania School of Veterinary Medicine (Penn Vet) and Perelman School of Medicine have reversed the disease process in a canine model of Best disease, an inherited form of macular degeneration that can lead to severe vision loss in humans. The therapeutic effect of the treatment has been sustained for as long as five years. Results of the study led by Karina Guziewicz, PhD, and Artur Cideciyan, PhD, were published online in the journal Proceedings of the National Academy of Sciences (PNAS).
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Choroideremia Gene Therapy Moves into Phase 3 Human Study

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Nightstar Therapeutics, a retinal-disease, gene-therapy development company in the UK, is advancing its emerging gene therapy for choroideremia into a Phase 3 clinical trial known as STAR. The study will enroll approximately 140 patients at 18 clinical sites in the US, Europe, Canada, and South America.
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Natural History Study Launches for LCA Caused by Specific Mutation in CEP290

Massachusetts Eye and Ear (MEE) is participating in a natural history study for people with Leber congenital amaurosis (LCA) type 10 caused by a mutation referred to as “c.2991+1655A>G” in intron 26 of the CEP290 gene.
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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.

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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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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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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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