Luxturna (voretigene neparvovec, Novartis), is now funded for the treatment of patients living with an inherited retinal disease (IRD) caused by pathological biallelic RPE65 mutations who have sufficient viable retinal cells. 1
The approval follows a recommendation from the Medical Services Advisory Committee (MSAC), and makes Luxturna the first and only gene therapy to be jointly funded by Federal and State/Territory Governments. Funding of Lucturna will make this one time treatment more accessible to patients living with an IRDcaused by mutations in the RPE65 gene.1
Inherited retinal diseases are a group of conditions causing blindness which are linked to more than 260 different genes in the body, including the RPE65 gene.6 A double mutation in the RPE65 gene results in a rare and devastating disease affecting around one in 200,000 people – the equivalent of 125 Australians.7
The funding of Luxturna, the first ocular gene therapy to be available to people with an inherited retinal disease caused by mutations in the RPE65 gene, marks a new era of treatment in Australia
Luxturna is delivered in a single injection behind the retina by a specialist retinal surgeon. It then enters cells and delivers a working copy of the mutated gene, which begins producing the normal proteins essential for sight. The therapy is given only once per eye and does not modify any of the patient’s other genes.1
Gene therapies like Luxturna represent a significant advance in medicine, addressing the root cause of genetic conditions by replacing the faulty gene with working versions in one single treatment.1 By doing so, they can stop a disease in its tracks, reducing the burden for patients and their families by replacing a lifetime of care. This is in contrast to more conventional medicines, that traditionally manage ongoing symptoms and may need to be taken continually for life.
For those born with IRD, the burden of disease is high – they progressively lose their sight over time – most becoming blind by the time they reach their teenage years.2-5
Prior to the approval of Luxturna, there were no treatment options for people with this genetic condition – they could not escape the lifelong impact of the disease and the majority had to prepare for total blindness.8
The Royal Victorian Eye and Ear Hospital was announced by the Victorian Government as the designated Victorian provider of Luxturna, for eligible patients under the 2021–25 National Health Reform Agreement (NHRA).
Beginning of a New Era
“The funding of Luxturna, the first ocular gene therapy to be available to people with an inherited retinal disease caused by mutations in the RPE65 gene, marks a new era of treatment in Australia,” said Dr Tom Edwards, Clinical Lead for implementation of Luxturna and vitreoretinal surgeon, The Royal Victorian Eye and Ear Hospital and Principal Investigator of Retinal Gene Therapy Research at the Centre for Eye Research Australia (CERA).“Gene therapy introduces the potential to improve vision and prevent progressive sight loss in those with a genetic mutation following a single injection into each eye.”
Leighton Boyd, Chairman, Retina Australia said, “Inherited retinal diseases are a group of conditions that disproportionally affect children and young adults and lead to blindness. In Australia, one in every 1,500 children is born with an inherited retinal disease. The patient burden is extremely high and the impact on family and friends can also be devastating. Retina Australia welcomes the news of this new targeted gene therapy that has the potential to improve vision and prevent progression towards total blindness for people with mutations in the RPE65 gene. This life-changing therapy brings hope to more than 15,000 affected Australians that treatment for all forms of inherited retinal disease may be possible. Retina Australia looks forward to learning how patients respond to Luxturna”.
“The reimbursement and funding of the first ocular gene therapy in Australia, Luxturna, marks a milestone in reimagining medicine and has the potential to bring real value to patients in Australia living with inherited retinal disease, their families and society as a whole,” said Richard Tew, Country President, Novartis Australia and New Zealand. “At Novartis, we have pioneered the way to accelerate access to gene therapies delivering on our commitment to help transform patients suffering from a variety of rare genetic diseases, including IRD.”
Minimum Product Information: Luxturna
▼This medicinal product is subject to additional monitoring in Australia. This will allow quick identification of new safety information. Healthcare professionals are asked to report any suspected adverse events at www.tga.gov.au/reporting-problems.
Luxturna Voretigene neparvovec (recombinant adeno-associated virus 2 vector AAV2-Hrpe65V2).
See approved Product Information before prescribing. Approved Product Information available on request. Indication: Treatment of inherited retinal dystrophy caused by pathological biallelic RPE65 mutations and who have sufficient viable retinal cells as determined by the treating physician. Pathological mutations of RPE65 should be confirmed by a NATA or ILAC accredited laboratory. Contraindications: Hypersensitivity to voretigene neparvovec or the excipients, ocular or periocular infection, or active intraocular inflammation. Dosage and administration: Single-use vial for subretinal injections. Luxturna contains genetically modified organisms. Complex dosage and administration – see full PI before prescribing. Please contact Novartis for TGA and OGTR mandated activities prior to administering Luxturna. Precautions: ♦Endophthalmitis may occur following any intraocular surgical procedure or injection. Use proper aseptic injection technique when administering Luxturna. Advise patients to report signs or symptoms of infection or inflammation without delay. Patients should avoid swimming because of an increased risk of infection in the eye. ♦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, and retinal hemorrhage. 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. 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 or travel to high elevations until the air bubble formed following administration of Luxturna has completely dissipated from the eye. A period of up to one week or more following injection may be required before dissipation of the air bubble. Verify the dissipation of the air bubble through ophthalmic examination. A rapid increase in altitude while the air bubble is still present can cause a rise in eye pressure and irreversible vision loss. ♦Vector shedding: Transient and low level vector shedding may occur in patient tears. Patients/caregivers should be advised to handle waste material generated from dressings, tears and nasal secretion appropriately, which may include storage of waste material in sealed bags prior to disposal. These handling precautions should be followed for 14 days after administration of Luxturna. It is recommended that patients/caregivers wear gloves for dressing changes and waste disposal, especially in case of underlying pregnancy, breastfeeding and immunodeficiency of caregivers. Patients treated with Luxturna should not donate blood, organs, tissues and cells for transplantation. ♦Cataract: Subretinal injection of Luxturna, especially vitrectomy surgery, is associated with an increased incidence of cataract development and/or progression.♦Use in Pregnancy: Category B2: As a precautionary measure, it is preferable to avoid the use of Luxturna during pregnancy. ♦Lactation: A decision must be made whether to discontinue breastfeeding or to abstain from voretigene neparvovec therapy taking into account the benefit of breastfeeding for the child and the benefit of therapy for the mother. ♦Safety and efficacy in patients ≥ 65 years of age, hepatic or renal impairment and children< 4 years of age not established. Adverse effects: ♦Very common (≥10%): Conjunctival hyperaemia, cataract, intraocular pressure increased. ♦Common (1 to 10%): Retinal tear, macular hole, retinal deposits, dellen, eye inflammation, maculopathy, eye irritation, eye pain, retinal detachment, retinal haemorrhage, choroidal haemorrhage, endophthalmitis, macular degeneration, conjunctival cyst, eye disorder, eye swelling, foreign body sensation in the eyes, retinal disorder. ♦Frequency not known: Chorioretinal atrophy*. Based on TGA approved Product Information dated 2 March 2022 (lux020322m). Novartis Pharmaceuticals Australia Pty Limited ABN 18 004 244 160. 54 Waterloo Road, Macquarie Park NSW 2113. Phone (02) 9805 3555.
For the most up to date Product Information go to
- Luxturna (Voretigene neparvovec) Product Information, March 2022. Available at:
- Banken, R et al. Voretigene Neparvovec for Biallelic RPE65-Mediated Retinal Disease: Effectiveness and Value, Final
Evidence Report. Institute for Clinical and Economic Review 2018. Available at icer-review.org/wpcontent/
uploads/2017/06/MWCEPAC_VORETIGENE_FINAL_EVIDENCE_REPORT_02142018.docx.pdf. Last accessed November 2018.
- Khan Z et al. Burden and Depression among Caregivers of Visually Impaired Patients in a Canadian Population. Advances in Medicine, 2016, 1–8.
- Banhazi J et al. PSY195 – Humanistic burden associated with RPE65 gene mutation related inherited retinal dystrophies: a systematic literature review. Value in Health 2018;21(3):S469.
- Chung DC, et al. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Am J Ophthalmol 2019;199: 58–70.
- RetNet: Summaries of Genes and Loci Causing Retinal Diseases. Available at: sph.uth.edu/retnet/sum-dis.htm. Accessed August 2021
- Novartis. Data on file. 2018.
- Russell S, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) inpatients with RPE65- mediated inherited retinal dystrophy: a randomised, controlled,open-label, phase 3 trial. The Lancet 2017; 390:849–860.
- Astuti GD, et al. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. Eur J Hum Genet 2016; 24: 1071–79.
- Henderson, R.H., et al., An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Investigative Ophthalmology & Visual Science 2007; 48(12):5684-5689.
- Russell S, et al. Three-year update for the phase 3 voretigene neparvovec study in biallelic RPE65 mutation-associated inherited retinal disease. Investigative Opthalmology & Visual Science 2018; 59.
- LUXTURNA. BLA Clinical Review Memorandum. Yao-Yao Zhu. US Food and Drug administration. Available at: www.fda.gov/media/110606/download. Last accessed on June 2020.
- Chung D et al. Long-term effect of voretigene neparvovec on the full-field light sensitivity threshold test of patients with RPE65 mutation-associated inherited retinal dystrophy: post-hoc analysis of phase I trial data. Presented at ARVO 2019.