Voretigene neparvovec (brand name Luxturna) is a gene therapy developed by Spark Therapeutics to treat inherited retinal diseases caused by mutations in the RPE65 gene. It is the first gene therapy to be approved by the US Food and Drug Administration (FDA), and is a one-time injection into the eyes of patients with inherited retinal dystrophy. It is designed to replace the mutated RPE65 gene in retinal cells with a healthy, functioning version of the gene, allowing the cells to produce the necessary protein that is needed for normal vision. It has been shown to improve visual acuity, contrast sensitivity, and ability to navigate in low light environments. It is also being studied as a potential treatment for other inherited retinal diseases.
Voretigene neparvovec, sold under the brand name Luxturna, is a gene therapy medication specifically designed to treat vision loss caused by a genetic condition [3].
Here's a breakdown of voretigene neparvovec:
- Condition: Inherited retinal dystrophy caused by mutations in both copies of the RPE65 gene [1, 3]. This is a genetic disorder that leads to progressive blindness.
- Function: It delivers a healthy copy of the RPE65 gene into retinal cells. This gene is responsible for producing an enzyme essential for normal retinal function [5, 6]. By introducing the functional gene, voretigene neparvovec aims to restore some vision in patients.
- Delivery: The medication is delivered directly into the eye through a subretinal injection [2].
Important points to remember:
- Voretigene neparvovec is only effective for patients with the specific genetic mutation mentioned earlier. Genetic testing is required for diagnosis [3].
- The treatment is most beneficial when there are still enough viable retinal cells left. A healthcare professional will assess this suitability [3].
- Voretigene neparvovec is a groundbreaking therapy, being the first FDA-approved gene therapy for a genetic disease [4].