Resamirigene bilparvovec

Resamirigene Bilparvovec is a gene therapy product developed for the treatment of Leber's congenital amaurosis (LCA), a rare genetic disorder affecting the retina at the back of the eye. It is the first gene therapy approved for a genetic disease in the United States by the Food and Drug Administration (FDA).

Overview

Resamirigene Bilparvovec, also known as Luxturna, is a novel gene therapy that introduces a normal copy of the RPE65 gene into retinal cells. The RPE65 gene is responsible for producing a protein that makes light perception possible in the eyes. Mutations in this gene cause LCA, leading to progressive vision loss and eventually blindness.

Mechanism of Action

Resamirigene Bilparvovec works by using a modified, harmless virus (Adeno-associated virus AAV) to deliver a normal copy of the RPE65 gene to retinal cells. The virus is injected directly into the retina where it enters the cells and delivers the gene. This allows the cells to produce the necessary protein for vision, restoring the patient's ability to respond to light.

Clinical Trials and Approval

The effectiveness of Resamirigene Bilparvovec was established in a clinical trial involving patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. The trial demonstrated significant improvement in the ability to navigate in low light, a common problem for people with LCA.

In December 2017, the FDA approved Resamirigene Bilparvovec, making it the first gene therapy for a genetic disease in the U.S. The European Medicines Agency (EMA) granted marketing authorization for the therapy in November 2018.

Side Effects

Like all medicines, Resamirigene Bilparvovec can cause side effects, although not everybody gets them. The most common side effects include eye redness, cataract, increased intraocular pressure, and retinal tear.

See Also

• Gene Therapy
• Leber's congenital amaurosis
• Food and Drug Administration
• Adeno-associated virus
• European Medicines Agency