3 The technology

3.1 Voretigene neparvovec (Luxturna; Novartis Pharmaceuticals UK) is an adeno-associated virus vector-based gene therapy. It introduces a healthy copy of the defective RPE65 gene into the retinal cells of people with RPE65-mediated inherited retinal dystrophy (IRD), enabling patients to produce functional RPE65 protein. The aim is to improve visual function (performance of the eyes) and functional vision (the ability to carry out activities of daily living dependent on vision). Voretigene neparvovec has a marketing authorisation for 'the treatment of adult and paediatric patients with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells'.

3.2 Voretigene neparvovec is administered as a subretinal injection using a one‑off dose of 1.5×1011 vector genomes to each eye on separate days (no fewer than 6 days apart). Before administration, patients have an immunomodulatory regimen that is continued for 18 to 30 days.

3.3 The adverse reactions listed as common in the summary of product characteristics include: eye inflammation (including endophthalmitis), retinal disorder, an increase in intraocular pressure and temporary visual disturbances. For full details of adverse reactions see the summary of product characteristics.

3.4 The list price of voretigene neparvovec is £613,410 per patient (excluding VAT; company submission). The company has a commercial arrangement. This makes voretigene neparvovec available to the NHS with a discount. The size of the discount is commercial in confidence. It is the company's responsibility to let relevant NHS organisations know details of the discount.

  • National Institute for Health and Care Excellence (NICE)