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Posts tagged Spark Therapeutics

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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To Treat an Inherited Retinal Disease, It’s Good to Know Exactly What’s Wrong with the Gene

Jason Comander, M.D., Ph.D.In simple terms, genes are like recipes for making proteins. All the cells in our bodies “read” genetic information so they can make the critical proteins necessary to stay healthy and function properly. If there is a mistake in a gene — that is, a misspelling — a protein might not be made correctly and cells in the retina might degenerate and cause vision loss.

These misspellings are called mutations, and just like a mistake in a recipe, some mutations are more devastating than others. For example, when baking a cake, let’s say there is an error in the recipe. It incorrectly calls for a quarter cup of sugar, when the right amount is a half of a cup. The cake may not taste great, but it is still edible. But let’s say the instruction for adding flour is omitted entirely. Then the cake will be a complete failure and go uneaten.

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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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Treatments for Retinal Diseases are Leading to Therapies for the Brain

An image of the brainThe retina—the thin, fragile layer of tissue lining the back of the eye—gives us the invaluable gift of vision. It works like film or digital sensors in a camera by converting the light that enters our eye into electrical signals. Those signals are sent over the optic nerve to the back of the brain, where they are used to create the images we see.
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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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Gene Therapy Strengthens the Retina’s Connection to the Brain

diagram of brain affected by LCA therapyWhile we often think of the retina as that magical piece of tissue lining the back of the eye that makes vision possible, the brain is also an essential partner in the visual process. When light comes into the eye and is converted to electrical signals, those signals are sent through the optic nerve to the back of the brain, where they are transformed into the images we see. When children are born, pathways between the retina and the brain are in place, and, with increased interaction with the world, they become stronger over time.
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ARVO 2014: LCA Gene Therapy Recipient Featured During Keynote

Yannick Duwe and his father, Tony, at ARVOGene-therapy pioneer Jean Bennett, M.D., Ph.D., may have been the keynote speaker for the closing session at the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO), but Yannick Duwe, a 15-year-old patient with Leber congenital amaurosis (LCA) who was treated in her clinical trial six years ago, stole the show. He and his father, Tony, were part of a panel which also included members of Dr. Bennett’s research team.
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