麻豆传媒

The first gene therapy for a specific mutation leading to disease was approved by the FDA, the agency announced Tuesday.

Spark Therapeutics' voretigene neparvovec-rzyl (Luxturna) is now the first gene therapy approved to treat those with confirmed biallelic RPE65 mutation-associated retinal dystrophy, a type of Leber congenital amaurosis. This is a rare disease affecting approximately 1,000-2,000 patients in the U.S. A loss of vision often begins during childhood, with certain patients turning completely blind over time.

The therapy uses an engineered adeno-associated virus as vector to deliver a working copy of the RPE65 gene directly to retinal cells. It is administered via subretinal injection by a surgeon. Each eye must be treated at least 6 days apart.

An FDA advisory committee unanimously recommended approval for the therapy in October. In November, results of a small phase III study were presented showing that 93% of patients receiving the treatment had improved vision to the point where they could navigate a maze in low-to-moderate light.

"Today's approval marks another first in the field of gene therapy -- both in how the therapy works and in expanding the use of gene therapy beyond the treatment of cancer to the treatment of vision loss -- and this milestone reinforces the potential of this breakthrough approach in treating a wide-range of challenging diseases. The culmination of decades of research has resulted in three gene therapy approvals this year for patients with serious and rare diseases. I believe gene therapy will become a mainstay in treating, and maybe curing, many of our most devastating and intractable illnesses," said FDA Commissioner Scott Gottlieb, MD, in a .

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