Voretigene neparvovec

Voretigene neparvovec (trade name Luxturna) is a novel gene therapy treatment used for the treatment of Leber's congenital amaurosis (LCA), a rare form of inherited blindness. It is the first in vivo gene therapy approved by the Food and Drug Administration (FDA) in the United States.

Mechanism of Action

Voretigene neparvovec works by delivering a normal copy of the gene RPE65 into retinal cells. The RPE65 gene is responsible for producing a protein that converts light to an electrical signal in photoreceptor cells in the retina. Mutations in the RPE65 gene lead to reduced or absent levels of RPE65 activity, blocking this important visual cycle process.

Clinical Use

Voretigene neparvovec is indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cells as determined by the treating physicians.

Administration

The therapy is administered via subretinal injection by a surgeon experienced in performing vitrectomy. Each eye is treated on separate days within a close interval.

Clinical Trials

The effectiveness of voretigene neparvovec was established in a clinical development program that included 41 participants with biallelic RPE65 mutation-associated retinal dystrophy. The primary efficacy endpoint was the multi-luminance mobility test (MLMT) score change from baseline at one year.

Side Effects

Common side effects of voretigene neparvovec include eye redness, cataract, increased intraocular pressure, and retinal tear.

Regulatory Status

Voretigene neparvovec was granted orphan drug designation, breakthrough therapy designation, and priority review status by the FDA. It was approved by the FDA in December 2017.

See Also

• Gene therapy
• Leber's congenital amaurosis
• Orphan drug
• Breakthrough therapy