Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations

Marcin Stopa; Zuzanna Niedziela-Schwartz; Martyna Mieszczak; Piotr Rakowicz; Maciej Krawczyński

doi:10.5114/ko.2025.152089

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Pierwsze doświadczenia z terapią genową woretygenem neparwowekiem (Luxturna) w Polsce: analiza grupy 4 pacjentów z biallelicznymi mutacjami genu RPE65

Marcin Stopa

¹

,

Zuzanna Niedziela-Schwartz

¹

,

Martyna Mieszczak

¹

,

Piotr Rakowicz

¹

,

Maciej Krawczyński

^{2, 3}

Department of Ophthalmology, Chair of Ophthalmology and Optometry, Poznan University of Medical Sciences, Poland
Department of Medical Genetics, Poznan University of Medical Sciences, Poland
Genesis Medical Genetics Center in Poznan, Poland

KLINIKA OCZNA 2025, 127, 2: 71-79

DOI: https://doi.org/10.5114/ko.2025.152089

Data publikacji online: 2025/06/23

Pliki artykułu:

- KO-00550_EN_p.pdf [0.61 MB]

- KO-00550_PL.pdf [0.63 MB]

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AMA

Stopa M, Niedziela-Schwartz Z, Mieszczak M, Rakowicz P, Krawczyński M. Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations. Klinika Oczna / Acta Ophthalmologica Polonica. 2025;127(2):71-79. doi:10.5114/ko.2025.152089.

APA

Stopa, M., Niedziela-Schwartz, Z., Mieszczak, M., Rakowicz, P.,  & Krawczyński, M. (2025). Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations. Klinika Oczna / Acta Ophthalmologica Polonica, 127(2), 71-79. https://doi.org/10.5114/ko.2025.152089

Chicago

Stopa, Marcin, Zuzanna Niedziela-Schwartz, Martyna Mieszczak, Piotr Rakowicz,  and Maciej Krawczyński. 2025. "Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations". Klinika Oczna / Acta Ophthalmologica Polonica 127 (2): 71-79. doi:10.5114/ko.2025.152089.

Harvard

Stopa, M., Niedziela-Schwartz, Z., Mieszczak, M., Rakowicz, P.,  and Krawczyński, M. (2025). Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations. Klinika Oczna / Acta Ophthalmologica Polonica, 127(2), pp.71-79. https://doi.org/10.5114/ko.2025.152089

MLA

Stopa, Marcin et al. "Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations." Klinika Oczna / Acta Ophthalmologica Polonica, vol. 127, no. 2, 2025, pp. 71-79. doi:10.5114/ko.2025.152089.

Vancouver

Stopa M, Niedziela-Schwartz Z, Mieszczak M, Rakowicz P, Krawczyński M. Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations. Klinika Oczna / Acta Ophthalmologica Polonica. 2025;127(2):71-79. doi:10.5114/ko.2025.152089.

Metryki PlumX:

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.

Pierwsze doświadczenia z terapią genową woretygenem neparwowekiem (Luxturna) w Polsce: analiza grupy 4 pacjentów z biallelicznymi mutacjami genu RPE65

Marcin Stopa 1 , Zuzanna Niedziela-Schwartz 1 , Martyna Mieszczak 1 , Piotr Rakowicz 1 , Maciej Krawczyński 2, 3

Marcin Stopa

¹

,

Zuzanna Niedziela-Schwartz

¹

,

Martyna Mieszczak

¹

,

Piotr Rakowicz

¹

,

Maciej Krawczyński

^{2, 3}