Diagnostic-therapeutic pathway and organizational model for gene therapy in the administration of congenital retinal dystrophies in real-life
Keywords:Congenital retinal dystrophies, Diagnostic-therapeutic pathway, Gene therapy, Leber congenital amaurosis, Value framework, Voretigene neparvovec
Background: Leber congenital amaurosis is the first form of inherited retinal dystrophy (IRD) treated with a gene therapy approach using voretigene neparvovec (VN). To date, 42 patients have been treated, 25 of whom, treated at Clinica Oculistica Vanvitelli (Naples), have shown – after 45 days of treatment – a significant increase in dim-light visual function, a widening of the visual field, and an increase in central visual acuity.
Objective: A workshop has been organized to foster rapid access, investigate the current organizational scenario, and identify a value framework suitable for making gene therapy delivery efficient in terms of efficacy, safety, and sustainability.
Methods: The workshop involved 14 experts in clinical genetics, ophthalmology, and vitreoretinal surgery. All experts were subjected to questions related to three topics: diagnostic-therapeutic pathway of IRD patients, essential requirements for gene therapy delivery centres, and standardized model for therapy delivery. All contributions were judged to be of equal value.
Results: The panel identified: the steps of the diagnostic pathway to achieve early diagnosis; the essential criteria that delivery centres must possess in terms of experience, multidisciplinary team, and technical equipment; a standardized model for VN administration.
A network of few centres was identified as the best organizational model for VN delivery since it would ensure the gaining of experience and clinical excellence.
Conclusion: This paper provides a perspective that can be used as a starting point to standardize the diagnostic-therapeutic pathway of IRD patients and define the essential requirements that centres must meet for VN administration.
Testa F, Murro V, Signorini S, et al. RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. Invest Ophthalmol Vis Sci. 2022;63(2):13. https://doi.org/10.1167/iovs.63.2.13 PMID:35129589
Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol. 2007;144(6):791-811. https://doi.org/10.1016/j.ajo.2007.08.022 PMID:17964524
Amaurosi congenita di Leber, Fondazione Telethon, 2020. Online: https://www.telethon.it/cosa-facciamo/ricerca/malattie-studiate/amaurosi-congenita-di-leber (Accessed January 2023)
L’Amaurosi congenita di Leber, Associazione Italiana Amaurosi Congenita di Leber, 2003. Online http://www.ialca.org/pubblicazioni_scientifiche/l_amaurosi_congenita_di_leber.php (Accessed January 2023).
Testa F, Melillo P, Di Iorio V, et al. Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy. Sci Rep. 2022;12(1):17637. https://doi.org/10.1038/s41598-022-22180-6 PMID:36271235
Testa F, Melillo P, Della Corte M, et al. Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients. Transl Vis Sci Technol. 2021;10(10):11. https://doi.org/10.1167/tvst.10.10.11 PMID:34554209
Sodi A, Banfi S, Testa F, et al; Italian IRD Working Group. RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy. Orphanet J Rare Dis. 2021;16(1):257. https://doi.org/10.1186/s13023-021-01868-4 PMID:34088339
How to Cite
Copyright (c) 2023 Francesco Bandello, Maurizio Battaglia Parodi, Leonardo Colombo, Fabrizio Giansanti, Marcello Pani, Francesco Parmeggiani, Ugo Procoli, Stanislao Rizzo, Annalisa Scopinaro, Andrea Sodi, Annamaria Staiano, Giovanni Staurenghi, Francesca Simonelli
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors contributing to AboutOpen agree to publish their articles under the Creative Commons NonCommercial 4.0 International License (CC BY-NC 4.0), which allows third parties to copy and redistribute the material providing appropriate credit and a link to the license but does not allow to use the material for commercial purposes and to use the material if it has been remixed, transformed or built upon.