Luxturna has become the first gene therapy to receive government funding in Australia, in a landmark decision that will see the treatment jointly funded by federal and state governments.
Novartis announced on Friday 25 March 2022 the treatment would now be funded for patients with an inherited retinal diseased (IRD) caused by pathological biallelic RPE65 mutations, following a Medical Services Advisory Committee (MSAC) recommendation.
This makes Luxturna (voretigene neparvovec) – first approved by the Therapeutic Goods Administration in August 2020 – the first and only gene therapy to be jointly funded by federal and state/territory governments, the company stated.
IRDs 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 ~1 in 200,000 people – the equivalent of 125 Australians.7
Affected patients may be diagnosed with subtypes of either Leber congenital amaurosis or retinitis pigmentosa.
Luxturna is delivered in a single subretinal injection by a specialised 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 patients’ other genes.1
Gene therapies like Luxturna are said to 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.
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 become blind by the time they reach their teenage years.2-5 Prior to the approval of Luxturna, there were no treatments for people with this genetic condition, with the majority having to prepare for total blindness.8
The Royal Victorian Eye and Ear Hospital (RVEEH) 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).
Dr Tom Edwards is the clinical lead for implementation of Luxturna and a RVEEH vitreoretinal surgeon. He’s also principal investigator of retinal gene therapy research at the Centre for Eye Research Australia (CERA).
“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,” he said.
“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.”
Mr Leighton Boyd, chairman of Retina Australia, said IRDs 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 IRD.
“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,” he said.
“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.”
Mr Richard Tew, country president of Novartis Australia and New Zealand, said the reimbursement and funding of the first ocular gene therapy in Australia marked a milestone and has the potential to bring real value to patients in Australia living with IRDs, their families and society.
“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,” he said.
Eligible Luxturna patients must have IRD caused by pathological biallelic RPE65 mutations and have sufficient viable retinal cells as determined by the treating physician. Pathological mutations of RPE65 should be confirmed by a National Association of Testing Authorities (NATA) or International Laboratory Accreditation Cooperation (ILAC) accredited laboratory.
More reading
Sydney surgeon details first Luxturna gene therapy allowing patient to see stars
TGA approves Luxturna gene therapy
Inherited retinal diseases – the patient journey
Detection of inherited retinal diseases in primary care
References
- Luxturna® (Voretigene neparvovec) Product Information, March 2022. Available at: https://www.guildlink.com.au/gc/ws/nv/pi.cfm?product=nvpluxin
- 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 https://icer-review.org/wp- content/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: https://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: https://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 testof patients with RPE65 mutation-associated inherited retinal dystrophy: post-hoc analysis of phase I trialdata. Presented at ARVO 2019.