Voretigene neparvovec
Voretigene neparvovec is a novel gene therapy for the treatment of Leber congenital amaurosis. It was developed by Spark Therapeutics and Children's Hospital of Philadelphia. It is the first in vivo gene therapy approved by the FDA.
Leber's congenital amaurosis, or biallelic RPE65-mediated inherited retinal disease, is an inherited disorder causing progressive blindness. Voretigene is the first treatment available for this condition. The gene therapy is not a cure for the condition, but substantially improves vision in those treated. It is given as an subretinal injection.Chemistry and production
Voretigene neparvovec is an AAV2 vector containing human RPE65 cDNA with a modified Kozak sequence. The virus is grown in HEK 293 cells and purified for administration.History
Married researchers Jean Bennett and Albert Maguire, among others, worked for decades on studies of congenital blindness, culminating in approval of a novel therapy, Luxturna.
It was granted orphan drug status for Leber congenital amaurosis and retinitis pigmentosa. A biologics license application was submitted to the FDA in July 2017 with Priority Review. Phase III clinical trial results were published in August 2017. On 12 October 2017, a key advisory panel to the Food and Drug Administration, composed of 16 experts, unanimously recommended approval of the treatment. The US FDA approved the drug on December 19, 2017. With the approval, Spark Therapeutics received a pediatric disease priority review voucher.
The first commercial sale of voretigene neparvovec, which was also the first sale of any gene therapy product in the United States, occurred in March 2018. The price of the treatment at the time was announced as being $425,000 per eye.
