Voretigene neparvovec

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Voretigene neparvovec
Gene therapy
VectorAdeno-associated virus serotype 2
Nucleic acid typeDNA
Editing methodRPE65
Clinical data
Trade namesLuxturna
Other namesvoretigene neparvovec-rzyl
AHFS/Drugs.comProfessional Drug Facts
License data
  • US: N (Not classified yet)
Routes of
subretinal injection
ATC code
Legal status
Legal status

Voretigene neparvovec (Luxturna) is a novel gene therapy for the treatment of Leber's congenital amaurosis.[1] It was developed by Spark Therapeutics and Children's Hospital of Philadelphia.[2][3] It is the first in vivo gene therapy approved by the FDA.[4]

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.[5] The gene therapy is not a cure for the condition, but substantially improves vision in those treated.[6] It is given as an subretinal injection.

Chemistry and production[edit]

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.[7]


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.[8]

It was granted orphan drug status for Leber congenital amaurosis and retinitis pigmentosa.[9][10] A biologics license application was submitted to the FDA in July 2017 with Priority Review.[5] Phase III clinical trial results were published in August 2017.[11] On 12 October 2017, a key advisory panel to the Food and Drug Administration (FDA), composed of 16 experts, unanimously recommended approval of the treatment.[12] The US FDA approved the drug on December 19, 2017. With the approval, Spark Therapeutics received a pediatric disease priority review voucher.[13]

The first commercial sale of voretigene neparvovec—the first for any gene therapy product in the US—occurred in March 2018.[14][14][4] The price of the treatment has been announced at $425,000 per eye.[15]


  1. ^ "Luxturna (voretigene neparvovec-rzyl) label" (PDF). FDA. December 2017. Retrieved 31 December 2017. (for label updates, see FDA index page)
  2. ^ "Spark's gene therapy for blindness is racing to a historic date with the FDA". Statnews.com. 9 October 2017. Retrieved 9 October 2017.
  3. ^ Clarke,Reuters, Toni. "Gene Therapy for Blindness Appears Initially Effective, Says U.S. FDA". Scientific American. Retrieved 12 October 2017.
  4. ^ a b "First Gene Therapy For Inherited Disease Gets FDA Approval". NPR.org. 19 December 2017.
  5. ^ a b "Press Release - Investors & Media - Spark Therapeutics". Ir.sparktx.com. Retrieved 9 October 2017.
  6. ^ McGinley, Laurie (19 December 2017). "FDA approves first gene therapy for an inherited disease". Washington Post.
  7. ^ Russell, Stephen; Bennett, Jean; Wellman, Jennifer A.; Chung, Daniel C.; Yu, Zi-Fan; Tillman, Amy; Wittes, Janet; Pappas, Julie; Elci, Okan; McCague, Sarah; Cross, Dominique; Marshall, Kathleen A.; Walshire, Jean; Kehoe, Taylor L.; Reichert, Hannah; Davis, Maria; Raffini, Leslie; George, Lindsey A.; Hudson, F Parker; Dingfield, Laura; Zhu, Xiaosong; Haller, Julia A.; Sohn, Elliott H.; Mahajan, Vinit B.; Pfeifer, Wanda; Weckmann, Michelle; Johnson, Chris; Gewaily, Dina; Drack, Arlene; et al. (2017). "Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial". The Lancet. 390 (10097): 849–860. doi:10.1016/S0140-6736(17)31868-8. PMC 5726391. PMID 28712537.
  8. ^ "FDA approves Spark's gene therapy for rare blindness pioneered at CHOP - Philly". Philly.com. Retrieved 24 March 2018.
  9. ^ "Voretigene neparvovec - Spark Therapeutics - AdisInsight". adisinsight.springer.com.
  10. ^ Ricki Lewis, PhD (13 October 2017). "FDA Panel Backs Gene Therapy for Inherited Blindness". Medscape.
  11. ^ Lee, Helena; Lotery, Andrew (2017). "Gene therapy for RPE65 -mediated inherited retinal dystrophy completes phase 3". The Lancet. 390 (10097): 823–824. doi:10.1016/S0140-6736(17)31622-7. PMID 28712536.
  12. ^ "Landmark Therapy to Treat Blindness Gets One Step Closer to FDA Approval". Bloomberg.com. 12 October 2017. Retrieved 12 October 2017.
  13. ^ "Spark grabs FDA nod for Luxturna, a breakthrough gene therapy likely bearing a pioneering price". FiercePharma.
  14. ^ a b "The anxious launch of Luxturna, a gene therapy with a record sticker price". STAT. 21 March 2018. Retrieved 24 March 2018.
  15. ^ Tirrell, Meg (3 January 2018). "A US drugmaker offers to cure rare blindness for $850,000". CNBC. Retrieved 3 January 2018.

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