Luxturna (voretigene neparvovec) has been approved for use in Australia by the Therapeutics Goods Administration (TGA).1
TGA approval for Luxturna is indicated for the treatment of patients with inherited retinal dystrophy caused by pathological biallelic RPE65 mutations, who have sufficient viable retinal cells as determined by the treating physician.
The RPE65 protein is produced in the retinal pigment epithelium and supports and nourishes the retina. Mutations in the RPE65 gene lead to reduced or absent levels of RPE65 isomerohydrolase activity, blocking the visual cycle and resulting in progressive vision loss and ultimately, blindness.2
Luxturna is a onetime gene therapy has been shown to restore functional vision in children and adult patients with biallelic mutations of the RPE65 (retinal pigment epithelial 65 kDa protein) gene.1 The condition causes Leber’s congenital amaurosis type 2 and other forms of severe retinal degenerative disease.
Luxturna introduces a virus carrying the correct version of the mutated RPE-65 gene into the eye. The eye is an excellent location for gene therapy as it has favourable immunologic properties. Firstly, its lack of a direct blood supply to the outer retina and lack of lymphatics means that the risk of the virus being spread to the rest of the body is low. Furthermore, retinal cells do not divide after birth, meaning that transgene expression may persist indefinitely and not be diluted by cell division.
- FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss. December 19, 2017. Last accessed: January 22, 2018.