Voretigene neparvovec

From Wikipedia, the free encyclopedia

Voretigene neparvovec
Gene therapy
Target geneRPE65
VectorAdeno-associated virus serotype 2
Nucleic acid typeDNA
Clinical data
Trade namesLuxturna
Other namesvoretigene neparvovec-rzyl
AHFS/Drugs.comProfessional Drug Facts
License data
Routes of
Subretinal injection
ATC code
Legal status
Legal status
CAS Number

Voretigene neparvovec, sold under the brand name Luxturna, is a gene therapy medication for the treatment of Leber congenital amaurosis.[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.[7] The gene therapy is not a cure for the condition, but substantially improves vision in those treated.[8] It is given as a subretinal injection.

Voretigene neparvovec was approved for medical use in the United States in December 2017,[9] Australia in August 2020[10] and in Canada, in October 2020.[11] It is the first in vivo gene therapy approved by the US Food and Drug Administration (FDA).[12]

Medical uses[edit]

Voretigene neparvovec is indicated for the treatment of people with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells.[6]

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.[13]


It was developed by Spark Therapeutics and Children's Hospital of Philadelphia.[14][15][16]

It was granted orphan drug designation for Leber congenital amaurosis and retinitis pigmentosa.[17][18] A biologics license application was submitted to the US Food and Drug Administration (FDA) in July 2017 with Priority Review.[7] Phase III clinical trial results were published in August 2017.[19] On 12 October 2017, a key advisory panel to the FDA, composed of 16 experts, unanimously recommended approval of the treatment.[20] The FDA approved the drug on in December 2017.[9][5] With the approval, Spark Therapeutics received a pediatric disease priority review voucher.[21]

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.[22][12] The price of the treatment at the time was announced as being $425,000 per eye.[23]


  1. ^ a b "Luxturna Australian Prescription Medicine Decision Summary". Therapeutic Goods Administration (TGA). 13 August 2020. Retrieved 16 August 2020.
  2. ^ "Luxturna Product information". Health Canada. 25 April 2012. Retrieved 21 October 2020.
  3. ^ "Summary Basis of Decision (SBD) for Luxturna". Health Canada. 23 October 2014. Retrieved 29 May 2022.
  4. ^ a b "Luxturna- voretigene neparvovec-rzyl kit". DailyMed. 4 December 2019. Retrieved 14 August 2020.
  5. ^ a b "Luxturna". U.S. Food and Drug Administration (FDA). 19 December 2017. Retrieved 2 April 2020.
  6. ^ a b "Luxturna EPAR". European Medicines Agency (EMA). 24 September 2018. Retrieved 21 October 2020. Text was copied from this source which is © European Medicines Agency. Reproduction is authorized provided the source is acknowledged.
  7. ^ a b "Press Release - Investors & Media - Spark Therapeutics". Ir.sparktx.com. Retrieved 9 October 2017.[permanent dead link]
  8. ^ McGinley L (19 December 2017). "FDA approves first gene therapy for an inherited disease". Washington Post.
  9. ^ a b "FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss". U.S. Food and Drug Administration (FDA). 24 March 2020. Retrieved 28 November 2022.
  10. ^ "Luxturna". Therapeutic Goods Administration (TGA). 13 August 2020. Retrieved 22 September 2020.
  11. ^ "'I never saw stars before': Gene therapy brings back 8-year-old Canadian boy's sight". CTVNews. 14 October 2020. Retrieved 21 October 2020.
  12. ^ a b "First Gene Therapy For Inherited Disease Gets FDA Approval". NPR. 19 December 2017.
  13. ^ Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, et al. (August 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". Lancet. 390 (10097): 849–860. doi:10.1016/S0140-6736(17)31868-8. PMC 5726391. PMID 28712537.
  14. ^ "Spark's gene therapy for blindness is racing to a historic date with the FDA". Statnews.com. 9 October 2017. Retrieved 9 October 2017.
  15. ^ Clarke T. "Gene Therapy for Blindness Appears Initially Effective, Says U.S. FDA". Scientific American. Retrieved 12 October 2017.
  16. ^ "FDA approves Spark's gene therapy for rare blindness pioneered at CHOP". Philly. Retrieved 24 March 2018.
  17. ^ "Voretigene neparvovec - Spark Therapeutics - AdisInsight". adisinsight.springer.com.
  18. ^ Lewis R (13 October 2017). "FDA Panel Backs Gene Therapy for Inherited Blindness". Medscape.
  19. ^ Lee H, Lotery A (August 2017). "Gene therapy for RPE65-mediated inherited retinal dystrophy completes phase 3". Lancet. 390 (10097): 823–824. doi:10.1016/S0140-6736(17)31622-7. PMID 28712536. S2CID 26983863.
  20. ^ "Landmark Therapy to Treat Blindness Gets One Step Closer to FDA Approval". Bloomberg.com. 12 October 2017. Retrieved 12 October 2017.
  21. ^ "Spark grabs FDA nod for Luxturna, a breakthrough gene therapy likely bearing a pioneering price". FiercePharma. 19 December 2017.
  22. ^ "The anxious launch of Luxturna, a gene therapy with a record sticker price". STAT. 21 March 2018. Retrieved 24 March 2018.
  23. ^ Tirrell M (3 January 2018). "A US drugmaker offers to cure rare blindness for $850,000". CNBC. Retrieved 3 January 2018.

Further reading[edit]

External links[edit]