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Posts tagged leber congenital amaurosis

ProQR Doses First Participant in Its LCA10 Therapy Clinical Trial

ProQR, a biotech company in the Netherlands, has treated its first patient in a Phase 1/2 clinical trial for QR-110, a therapy for people with Leber congenital amaurosis 10 (LCA10), which is caused by the p.Cys998X mutation in the CEP290 gene. The mutation is estimated to affect about 2,000 people in the Western world.

The Phase 1/2 trial will enroll six children and six adults who have the mutation. Participants will receive a dose in one eye every three months for a year. The treatment is delivered through an injection into the vitreous, the gel-like substance in the middle of the eye.
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FDA Committee Unanimously Recommends Approval for Spark’s RPE65 Gene Therapy – Final Decision Due in January 2018

Ashley and Cole Carper traveled from Little Rock, AR, to tell their family’s story at the FDA hearing.

Ashley and Cole Carper traveled from Little Rock, AR, to tell their family’s story at the FDA hearing.

Spark Therapeutics has taken a major step closer to gaining marketing approval for its vision-restoring gene therapy for people with RPE65 mutations causing Leber congenital amaurosis (LCA) and retinitis pigmentosa. At the conclusion of a public hearing on October 12, 2017, an advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval. The FDA is due to make a final decision on marketing approval for the treatment, known as voretigene neparvovec, by January 12, 2018.

The event held at FDA headquarters included the presentation of trial results from Spark representatives, as well as compelling testimony from patients, family members, and industry stakeholders.

Twenty-four-year-old Katelyn Corey told hearing attendees that before receiving the treatment, her constant adaptation to dwindling vision didn’t leave time for much else in her life. But her circumstances changed dramatically in December 2013, after she received the RPE65 gene therapy in Spark’s Phase III clinical trial.
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FFB’s Investments Are Filling the Pipeline for Vision-Saving Therapies

GXM_7140With five gene-therapy clinical trials underway or soon to begin, Applied Genetic Technologies Corporation (AGTC) is generating tremendous excitement for the potential to overcome vision loss from several inherited retinal diseases.

At the Foundation’s Investing in Cures Summit on September 16 in Chicago, Sue Washer, AGTC’s chief executive officer, emphasized FFB’s crucial role in moving the company and its projects forward. “We as an organization would not be here today without FFB,” she said. “And that all started with the work that was funded by the Foundation in Bill Hauswirth’s lab at the University of Florida.” Bill Hauswirth, PhD, is one of AGTC’s scientific co-founders, and his groundbreaking gene-therapy research has been funded by FFB for 20 years.
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FFB-Funded Scientists Report on Nine Promising Translational Research Efforts

Translational research — moving promising science out of laboratories and into clinical trials — is essential to getting vision-saving, retinal-disease treatments out to the millions who need them. With that said, translational research is also costly and high risk and requires extensive clinical development and regulatory knowledge.

The Foundation Fighting Blindness has taken the translational challenge head on by investing more than $75 million in therapy-development projects with strong clinical-trial potential through its Translational Research Acceleration Program (TRAP), which includes Gund-Harrington Scholar Awards.
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Clinical Trial Authorized in the U.S. for Emerging LCA 10 Therapy

ProQR, a biotechnology company in the Netherlands, has received authorization from the U.S. Food and Drug Administration to start a Phase I/II clinical trial for its therapy known as QR-110, which is being developed for Leber congenital amaurosis type 10 (LCA 10). The genetic retinal condition causes severe vision loss in children. QR-110 targets the specific mutation p.Cys998X in the CEP290 gene, also known as c.2991+1655A>G mutation. It is estimated that it affects about 2,000 people in the Western world.

QR-110 was a featured topic at the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO) in Baltimore, May 7-11. About 12,000 eye researchers and industry professionals attended the event.
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ID Your IRD: A Free Genetic Testing Program for Eligible People with Inherited Retinal Diseases


Genes are like the blueprint or code for determining who we are. We all have about 23,000 pairs of genes in most cells in our bodies. Many of our physical attributes — such as height, eye and hair color, and complexion — are determined by our genes.

However, certain misspellings, also known as mutations, in our genetic code can cause diseases or increase our risk for them. In fact, inherited retinal diseases are caused by mutations in single genes.
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Researchers Identify Canine Model of LCA (NPHP5) — Pursue Gene Therapy

Photo of William Beltran, Artur Cideciyan, Gustavo Aguirre and Samuel Jacobson. Photo by John Donges/Penn Vet

William Beltran, Artur Cideciyan, Gustavo Aguirre and Samuel Jacobson. Photo by John Donges/Penn Vet

When scientists embark on developing a treatment for an inherited retinal disease, one of their first tasks is to identify or create a model of the condition. Disease models can be cells in a Petri dish, a genetically engineered mouse or rat, or larger animal such as a pig. Each type of model has its pros and cons, including cost and similarity of disease characteristics to those in humans.

The investigators then use the model to study how vision is lost — that is, they figure out which types of retinal cells degenerate, what is causing the degeneration, and how quickly the cells stop working. After they gain an understanding of the disease, researchers evaluate potential therapeutic approaches using the model as a testing platform.

The goal: Move a therapy into a human study.
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For Rare Disease Day – The Many Benefits of Genetic Research

Rare Disease Day logoIt’s apropos that Rare Disease Day 2016 will be held on the rarest day on the calendar—Leap Day, February 29.

However, collectively, rare diseases are not uncommon. About 30 million Americans, nearly 10 percent of our population, are affected by one of 7,000 rare diseases. They’re an important public health issue, making it incumbent upon us to work hard to eradicate them.
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2015 Top 10 Retinal-Research Advances

Researcher in a labThe Foundation Fighting Blindness’ scientists, donors and volunteers made 2015 an outstanding year in our fight against blindness. As I tabulated the year’s top 10 research advances—all made possible through FFB funding—I realized that eight are for clinical trials of emerging therapies that are launching or underway.
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A Leap Forward: Spark Therapeutics Seeks FDA Approval for its Vision-Restoring Gene Therapy

Gene therapy recipient Yannick DuweWe’re approaching a critical milestone in the fight against blinding retinal diseases, and it has the potential to tremendously boost and accelerate the advancement of virtually all gene therapies in development for dozens of inherited retinal diseases.

Sometime in 2016, Spark Therapeutics will request marketing approval from the U.S. Food and Drug Administration (FDA) for its landmark gene therapy for retinal conditions caused by mutations in the gene RPE65, namely certain forms of Leber congenital amaurosis and retinitis pigmentosa.
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