An early-stage clinical experiment published in the New England Journal of Medicine found that gene therapy can improve hereditary blindness.

Researchers from the Children's Hospital of Philadelphia and the Mass Eye and Ear Ocular Genomics Institute experimented with those with Leber Congenital Amaurosis (LCA). This rare hereditary disorder causes eyesight loss from birth. According to a report from Star Local Media, eleven of 14 subjects who got a single gene-editing injection improved their eyesight in one eye.

Dr. Tomas Aleman, the pediatric ophthalmologist for the study, described it as remarkable because it was the first time congenitally blind children received gene editing treatment to enhance their daytime vision.

Lead researcher Dr. Eric Pierce stressed the therapy's tremendous impact, especially for those without previous treatment alternatives. He emphasized participants' encouraging remarks, including newfound skills like recognizing food on their plates.

Life-Changing Results

LCA, usually occurring at birth or within six months, blinds two to three neonates per 100,000-mutations in the CEP290 gene damage retinal rods and cones, which interpret visual information.

CRISPR-Cas9 gene editing allowed researchers to modify defective genes to fix this genetic abnormality precisely. The clinical experiment was the first to deliver CRISPR-based gene therapy directly to a patient.

Nearly 80% of study participants improved at least one vision-related outcome. In particular, 43% enhanced several outcomes, while others improved vision-related quality of life.

According to Editas Medicine Chief Medical Officer Dr. Baisong Mei, the results were promising for developing new therapies for hereditary retinal illnesses. He highlighted the successful delivery of CRISPR-based gene editing treatment to the retina and clinically relevant results.

Editas Medicine studied CRISPR-Cas9 technology for genetic aberrations like the CEP290 mutation for a decade. Following this research, the BRILLIANCE trial commenced in 2019, per Interesting Engineering.

The 2020 BRILLIANCE clinical study was the first time physicians directly edited genes using CRISPR. Researchers are considering business partnerships to perform larger-scale studies to validate this revolutionary gene therapy strategy.

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Pfizer's Gene Therapy Gets Greenlight from FDA

In a separate breakthrough, the FDA recently approved Pfizer's gene therapy for a rare hereditary bleeding ailment, making it the first US gene therapy.

Beqvez, a medication, has received approval for individuals with moderate to severe hemophilia B who meet specific requirements, per CNBC. A Pfizer representative said qualified patients can get the medication via prescription this quarter. However, it costs $3.5 million before insurance and discounts, making it one of the most costly pharmaceuticals in the country.

Due to factor IX deficiency, Hemophilia B affects approximately 7,000 Americans, primarily men. Beqvez is a one-time therapy that helps people generate factor IX independently to stop bleeding.

In late-stage studies, Beqvez outperformed hemophilia B therapy, which frequently involves protein injections into the veins. Dr. Adam Cuker, head of Penn Medicine's Comprehensive and Hemophilia Thrombosis Program, said Pfizer's medication might lessen treatment burdens and problems.

The clearance is a milestone for Pfizer as it diversifies its portfolio after the COVID-19 pandemic. Gene and cell therapies, which target genetic or cellular causes of illnesses, are growing sectors that Pfizer hopes to profit from, focusing on cancer medications and other ailments.

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