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GETTING STARTEDGet to know RPE65

Not actual patient.

The RPE65 gene has more than 300 variations, about 65 of which are considered pathogenic.1

Not actual patient.

The RPE65 gene is essential to the visual cycle2

  • The visual cycle is critical in the biological conversion of light into electrical signals.2-4
  • The RPE65 gene encodes the RPE65 protein. RPE65 is necessary for vitamin A metabolism in photoreceptor cells.2,4
  • The RPE65 protein is located in the retinal pigment epithelial (RPE) cells and converts all-trans-retinol to 11-cis-retinol, which subsequently forms 11-cis-retinal during the visual cycle.2-4
  • Mutations in the RPE65 gene lead to vision loss due to loss of function (or death) of RPE cells and eventual degeneration of photoreceptors.3,5

Illustration of the visual cycle being restored

The RPE65 gene is one out of more than 270 genes that may be responsible for inherited retinal disease.6,7

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IMPORTANT SAFETY INFORMATION FOR LUXTURNA

Warnings and Precautions

  • Endophthalmitis may occur following any intraocular surgical procedure or injection. Use proper aseptic injection technique when administering LUXTURNA, and monitor for and advise patients to report any signs or symptoms of infection or inflammation to permit early treatment of any infection.
  • Permanent decline in visual acuity may occur following subretinal injection of LUXTURNA. Monitor patients for visual disturbances.
  • Retinal abnormalities may occur during or following the subretinal injection of LUXTURNA, including macular holes, foveal thinning, loss of foveal function, foveal dehiscence, chorioretinal atrophy, and retinal hemorrhage. Monitor and manage these retinal abnormalities appropriately. Do not administer LUXTURNA in the immediate vicinity of the fovea. Retinal abnormalities may occur during or following vitrectomy, including retinal tears, epiretinal membrane, or retinal detachment. Monitor patients during and following the injection to permit early treatment of these retinal abnormalities. Advise patients to report any signs or symptoms of retinal tears and/or detachment without delay.
  • Increased intraocular pressure may occur after subretinal injection of LUXTURNA. Monitor and manage intraocular pressure appropriately.
  • Expansion of intraocular air bubbles Instruct patients to avoid air travel, travel to high elevations or scuba diving until the air bubble formed following administration of LUXTURNA has completely dissipated from the eye. It may take one week or more following injection for the air bubble to dissipate. A change in altitude while the air bubble is still present can result in irreversible vision loss. Verify the dissipation of the air bubble through ophthalmic examination.
  • Cataract Subretinal injection of LUXTURNA, especially vitrectomy surgery, is associated with an increased incidence of cataract development and/or progression.

Adverse Reactions

  • In clinical studies, ocular adverse reactions occurred in 66% of study participants (57% of injected eyes), and may have been related to LUXTURNA, the subretinal injection procedure, the concomitant use of corticosteroids, or a combination of these procedures and products.
  • The most common adverse reactions (incidence ≥5% of study participants) were conjunctival hyperemia (22%), cataract (20%), increased intraocular pressure (15%), retinal tear (10%), dellen (thinning of the corneal stroma) (7%), macular hole (7%), subretinal deposits (7%), eye inflammation (5%), eye irritation (5%), eye pain (5%), and maculopathy (wrinkling on the surface of the macula) (5%).

Immunogenicity

Immune reactions and extra-ocular exposure to LUXTURNA in clinical studies were mild. No clinically significant cytotoxic T-cell response to either AAV2 or RPE65 has been observed. In clinical studies, the interval between the subretinal injections into the two eyes ranged from 7 to 14 days and 1.7 to 4.6 years. Study participants received systemic corticosteroids before and after subretinal injection of LUXTURNA to each eye, which may have decreased the potential immune reaction to either AAV2 or RPE65.

Pediatric Use

Treatment with LUXTURNA is not recommended for patients younger than 12 months of age, because the retinal cells are still undergoing cell proliferation, and LUXTURNA would potentially be diluted or lost during the cell proliferation. The safety and efficacy of LUXTURNA have been established in pediatric patients. There were no significant differences in safety between the different age subgroups.

Please see the US Full Prescribing Information for LUXTURNA.

INDICATION

LUXTURNA (voretigene neparvovec-rzyl) is an adeno-associated virus vector-based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.

Patients must have viable retinal cells as determined by the treating physicians.

References:

1. Aoun M, Passerini I, Chiurazzi P, et al. Inherited retinal diseases due to RPE65 variants: from genetic diagnostic management to therapy. Int J Mol Sci. 2021;22(13):7207. doi:10.3390/ijms22137207. 2. Cai X, Conley SM, Naash MI. RPE65: role in the visual cycle, human retinal disease, and gene therapy. Ophthalmic Genet. 2009;30(2):57-62. doi:10.1080/13816810802626399. 3. LUXTURNA [package insert]. Philadelphia, PA: Spark Therapeutics, Inc; 2017. 4. Cideciyan AV. Leber congential amaurosis due to RPE65 mutations and its treatment gene therapy. Prog Retin Eye Res. 2010;29(5):398-427. doi:10.1016/j.preteyeres.2010.04.002. 5. Russell S, Bennett J, Wellman JA, et al. 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. 2017;390(10097):849-860. doi:10.1016/S0140-6736(17)31868-8. 6. RetNet: summaries of genes and loci causing retinal diseases. Retinal Information Network. Updated January 7, 2022. Accessed January 21, 2022. https://sph.uth.edu/retnet/sum-dis.htm. 7. Lee K, Garg S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet Med. 2015;17(4):245-252. doi:10.1038/gim.2015.15.