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Posts tagged leber congenital amaurosis

The Foundation Receives a $100,000 Research Grant from Sofia Sees Hope

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Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
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FDA Authorizes Clinical Trial for CRISPR/Cas9 Therapy for LCA 10

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Editas Medicine, a company developing gene-editing treatments, has received authorization from the US Food and Drug Administration to launch a clinical trial for its emerging CRISPR/Cas9 therapy for people with a mutation in the gene CEP290, which causes Leber congenital amaurosis 10 (LCA10). LCA causes severe vision loss or blindness at birth.
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Michael Kalberer: Determined to Empower Others and Bring Hope

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Long Island native Michael Kalberer has a knack for connecting with everyone around him, despite being born with cerebral palsy (CP), a disorder that affects a person’s ability to move and maintain balance. The condition can also cause vision loss. At the age of 12, Michael noticed issues with his depth perception and visual field, which resulted in a diagnosis that he was legally blind. At 33 years old, he was finally diagnosed, specifically, with Leber congenital amaurosis (LCA).
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A Boy with No Boundaries

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Last summer, Kai Wang devoured 12 audio books on science and engineering feats like the Golden Gate Bridge, atomic bombs, and the cotton gin. He listened to the books over and over — some as many as five times. One of his favorite titles was “Rocket Men,” a 400-page book for adults on Apollo 8, the first manned mission to the moon.  He finished it in a week.

Kai enjoys talking with his mom, Mina, about everything he learns and reads. But it’s not just banter for him — he’s often quizzing her to see what she knows.

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Vision Improvements Reported in ProQR’s Clinical Trial for LCA10 Treatment

ProQR, a biotech company in the Netherlands, has reported vision improvements for patients 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 company reported that 60 percent of subjects in the trial demonstrated improvements in visual acuity and their ability to navigate a mobility course. The treatment was also safe for patients.
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FFB Funding More than $2 Million in New Research

The Foundation Fighting Blindness has announced funding for seven new research projects to advance the development of treatments and cures for retinal degenerative diseases. Each project will receive a total of $300,000 over a three-year period.

The grants were selected through FFB’s annual call for research proposals from individual investigators. Seventy scientists submitted requests for funding. Applications were reviewed by FFB’s Scientific Advisory Board, which is comprised of the world’s leading retinal experts.
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ARVO 2018: Dr. Shannon Boye Reports on her Emerging Gene Therapy for LCA (GUCY2D)

At the annual ARVO research conference in Honolulu, I had an opportunity to talk with FFB-funded researcher Shannon Boye, PhD, University of Florida, about her advancement of gene therapy for Leber congenital amaurosis (GUCY2D mutations) toward a clinical trial.

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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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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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