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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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ProQR Receives FDA Authorization to Launch Clinical Trial for USH2A Therapy

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ProQR, a biotech in the Netherlands developing therapies for rare diseases, has received authorization from the US Food and Drug Administration to launch a Phase 1/2 clinical trial for QR-421a, its treatment targeting mutations in exon 13 of the USH2A gene. The mutations cause Usher syndrome type 2A (combined vision and hearing loss) and non-syndromic retinitis pigmentosa (vision loss only) in approximately 16,000 people in the Western World. ProQR plans to begin enrolling patients in the QR-421a Phase 1/2 trial named STELLAR in the coming months with preliminary data expected in mid-2019.
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Acucela Enrolling Patients in Phase 3 Trial for Stargardt Disease Treatment

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The Seattle biotech Acucela is now enrolling participants in its Phase 3 clinical trial for emixustat hydrochloride, an emerging oral drug for slowing vision loss in people with Stargardt disease, an inherited form of a macular degeneration. The progressive retinal condition affects 30,000 people in the US.
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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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Ophthotech to Boost Development of Gene Therapy for Best Disease

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Ophthotech Corporation, a biopharmaceutical company focused on the development of therapies for orphan retinal diseases and age-related macular degeneration, has announced an evolving, commercial partnership with the University of Pennsylvania and University of Florida to develop a gene therapy for Best disease caused by BEST1 mutations.
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Foundation Invests $2.5 Million in Search for Elusive Retinal Disease Genes and Mutations

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Since the identification in 1989 of the first gene associated with an inherited retinal disease (IRD) – that gene was RHO, which when mutated, is a frequent cause of retinitis pigmentosa (RP) – genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.

The cumulative breakthroughs in IRD gene discovery over the past three decades are indeed impressive. It means that, today, about 65-70 percent of IRD patients will have their mutated gene identified when getting tested. However, it also means that the gene mutations for about one-third of patients are still not identified.
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Recording Available for Achromatopsia Teleconference Hosted by AGTC, Foundation, and Achroma Corp

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Achromatopsia is a challenging inherited retinal disease causing extreme light sensitivity, as well as impaired visual acuity and color perception. Approximately 75 percent of cases are caused by mutations in the genes CNGA3 or CNGB3.

Applied Genetic Technologies Corporation (AGTC), Achroma Corp, and the Foundation Fighting Blindness hosted a one-hour teleconference on the condition. The call highlighted the difficulties patients have in getting a diagnosis for achromatopsia, the importance of genetic testing, and gene therapy clinical trials underway. Presenters included Dr. Christine Kay, a clinical trial investigator with Vitreo Retinal Associates (Gainesville, Florida), and Bridget Vissari, president of Achroma Corp, which is expediting cures for achromatopsia.
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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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Apellis Launches Phase 3 Clinical Trial Program for Advanced Dry AMD Treatment

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The biopharmaceutical company Apellis has treated the first patient in its Phase 3 clinical trial program for APL-2, a compound designed to slow the progression of advanced dry age-related macular degeneration (AMD) also known as geographic atrophy (GA).
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FFB Congratulates RPE65 Gene Therapy Researchers for Champalimaud Award

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More than two decades ago, the Foundation Fighting Blindness (FFB) began funding RPE65 gene therapy research that led in late 2017 to LUXTURNA™, the first FDA-approved gene therapy for the eye or an inherited condition. Ultimately, the Foundation provided more than $10 million in funding for the groundbreaking effort.
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