Voretigene neparvovec, sold under the brand name Luxturna, is a

gene therapy Gene therapy is a medical field which focuses on the genetic modification of cells to produce a therapeutic effect or the treatment of disease by repairing or reconstructing defective genetic material. The first attempt at modifying human D ...

medication for the treatment of Leber congenital amaurosis. Leber's congenital amaurosis, or biallelic

RPE65 Retinal pigment epithelium-specific 65 kDa protein, also known as retinoid isomerohydrolase, is an enzyme of the vertebrate visual cycle that is encoded in humans by the ''RPE65'' gene. RPE65 is expressed in the retinal pigment epithelium (RPE, a ...

-mediated inherited

retina The retina (from la, rete "net") is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then ...

l 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 a subretinal injection. Voretigene neparvovec was approved for medical use in the United States in December 2017, Australia in August 2020 and in Canada, in October 2020. It is the first ''in vivo'' gene therapy approved by the US

Food and Drug Administration The United States Food and Drug Administration (FDA or US FDA) is a federal agency of the Department of Health and Human Services. The FDA is responsible for protecting and promoting public health through the control and supervision of food ...

(FDA).

Medical uses

Voretigene neparvovec is

indicated In medicine, an indication is a valid reason to use a certain test, medication, procedure, or surgery. There can be multiple indications to use a procedure or medication. An indication can commonly be confused with the term diagnosis. A diagnosis ...

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.

Chemistry and production

Voretigene neparvovec is an

AAV2 Adeno-associated viruses (AAV) are small viruses that infect humans and some other primate species. They belong to the genus '' Dependoparvovirus'', which in turn belongs to the family '' Parvoviridae''. They are small (approximately 26 nm ...

vector Vector most often refers to: *Euclidean vector, a quantity with a magnitude and a direction *Vector (epidemiology), an agent that carries and transmits an infectious pathogen into another living organism Vector may also refer to: Mathematic ...

containing human

cDNA In genetics, complementary DNA (cDNA) is DNA synthesized from a single-stranded RNA (e.g., messenger RNA (mRNA) or microRNA (miRNA)) template in a reaction catalyzed by the enzyme reverse transcriptase. cDNA is often used to express a speci ...

with a modified

Kozak sequence The Kozak consensus sequence (Kozak consensus or Kozak sequence) is a Nucleic acid sequence, nucleic acid motif that functions as the protein Translation (biology), translation initiation site in most eukaryotic Messenger RNA, mRNA transcripts. Reg ...

. The virus is grown in

HEK 293 cells Human embryonic kidney 293 cells, also often referred to as HEK 293, HEK-293, 293 cells, or less precisely as HEK cells, are a specific immortalised cell line derived from a spontaneously miscarried or aborted fetus or human embryonic kidney cells ...

and purified for administration.

History

It was developed by Spark Therapeutics and

Children's Hospital of Philadelphia The Children's Hospital of Philadelphia (CHOP) is a children's hospital in Philadelphia, Pennsylvania, with its primary campus located in the University City neighborhood of West Philadelphia in the campus of the University of Pennsylvania. The ...

. It was granted

orphan drug An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to produce without government assistance. The conditions are referred to as orphan diseases. The assignment o ...

designation for Leber congenital amaurosis and

retinitis pigmentosa Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may ...

. A

biologics license application A biologics license application (BLA) is defined by the U.S. Food and Drug Administration The United States Food and Drug Administration (FDA or US FDA) is a federal agency of the Department of Health and Human Services. The FDA is respo ...

was submitted to the US

Food and Drug Administration (FDA) Food is any substance consumed by an organism for Nutrient, nutritional support. Food is usually of plant, animal, or Fungus, fungal origin, and contains essential nutrients, such as carbohydrates, fats, protein (nutrient), proteins, vitamins ...

in July 2017 with

Priority Review Priority review is a program of the United States Food and Drug Administration (FDA) to expedite the review process for drugs that are expected to have a particularly great impact on the treatment of a disease. The priority review voucher program ...

Phase III clinical trial The phases of clinical research are the stages in which scientists conduct experiments with a health intervention to obtain sufficient evidence for a process considered effective as a medical treatment. For drug development, the clinical phase ...

results were published in August 2017. On 12 October 2017, a key advisory panel to the FDA, composed of 16 experts, unanimously recommended approval of the treatment. The FDA approved the drug on in December 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.

References

External links

* {{Portal bar , Medicine Gene therapy Ophthalmology drugs Orphan drugs

Medical uses

Chemistry and production

History

References

Further reading

External links