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2/2025
vol. 127 Original article
Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations
Marcin Stopa
1
,
Zuzanna Niedziela-Schwartz
1
,
Martyna Mieszczak
1
,
Piotr Rakowicz
1
,
Maciej Krawczyński
2, 3
KLINIKA OCZNA 2025, 127, 2: 71-79
Online publish date: 2025/06/23
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1. den Hollander AI, Roepman R, Koenekoop RK, Cremers FPM. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008; 27: 391-419. 2.
Wang X, Yu C, Tzekov RT, et al. The effect of human gene therapy for RPE65-associated Leber’s congenital amaurosis on visual function: a systematic review and meta-analysis. Orphanet J Rare Dis 2020; 15: 49. 3.
Aoun M, Passerini I, Chiurazzi P i wsp. Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy. Int J Mol Sci 2021; 22: 7207. 4.
Deutsche Ophthalmologische Gesellschaft (DOG), Berufsverband der Augenärzte Deutschlands e. V. (BVA), Retinologische Gesellschaft e. V. (RG). Statement of the DOG, the RG, and the BVA on the therapeutic use of voretigene neparvovec (LuxturnaTM) in ophthalmology. English version: January 2019. Ophthalmologe 2020; 117: 16-24. 5.
Chung DC, Bertelsen M, Lorenz B, et al. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Am J Ophthalmol 2019; 199: 58-70. 6.
Gange WS, Sisk RA, Besirli CG, et al. Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis. Ophthalmol Retina 2022; 6: 58-64. 7.
Ferris FL, Kassoff A, Bresnick GH, Bailey I. New visual acuity charts for clinical research. Am J Ophthalmol 1982; 94: 91-96. 8.
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: 849-860. 9.
Maguire AM, Russell S, Wellman JA, et al. Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation–Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials. Ophthalmology 2019; 126: 1273-1285. 10.
Lorenz B, Künzel SH, Preising MN, et al. Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting. Ophthalmology 2024; 131: 161-178. 11.
Deng C, Zhao PY, Branham K, et al. Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis. Graefes Arch Clin Exp Ophthalmol 2022; 260: 1543-1550. 12.
Maguire AM, Russell S, Chung DC, et al. Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years. Ophthalmology 2021; 128: 1460-1468.
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