Diagnostic-therapeutic pathway and organizational model for gene therapy in the administration of congenital retinal dystrophies in real-life

Authors

  • Francesco Bandello Clinica Oculistica, Università Vita-Salute, IRCCS San Raffaele, Milano - Italy https://orcid.org/0000-0003-3238-9682
  • Maurizio Battaglia Parodi Clinica Oculistica, Università Vita-Salute, IRCCS San Raffaele, Milano - Italy https://orcid.org/0000-0002-0385-7961
  • Leonardo Colombo Ospedale San Paolo, ASST Santi Paolo e Carlo, Milano - Italy https://orcid.org/0000-0002-9556-994X
  • Fabrizio Giansanti Azienda Ospedaliero Universitaria Careggi, Firenze - Italy
  • Francesco Saverio Mennini Centre for Economics and International Studies – Economic Evaluation and Health Technology Assessment, Faculty of Economics, University of Rome “Tor Vergata”, Rome - Italy
  • Marcello Pani Policlinico Universitario Fondazione Agostino Gemelli IRCCS, Roma - Italy
  • Francesco Parmeggiani Dipartimento di Medicina Traslazionale, Università di Ferrara, Ferrara - Italy and Centro per la Retinite Pigmentosa della Regione Veneto (Rete ERN-EYE), Ospedale di Camposampiero, Azienda ULSS6 Euganea, Padova - Italy https://orcid.org/0000-0002-9296-0986
  • Ugo Procoli Azienda Ospedaliera Policlinico consorziale di Bari, Bari - Italy https://orcid.org/0009-0006-9467-1033
  • Stanislao Rizzo Policlinico Universitario Fondazione Agostino Gemelli IRCCS, Roma - Italy and Università Cattolica del Sacro Cuore, Roma - Italy
  • Annalisa Scopinaro UNIAMO, Federazione Italiana Malattie Rare, Roma - Italy https://orcid.org/0009-0007-9954-3599
  • Andrea Sodi Clinica Oculistica, Università degli studi di Firenze, Firenze - Italy
  • Annamaria Staiano Università degli Studi “Federico II”, Napoli - Italy https://orcid.org/0000-0003-0586-1339
  • Giovanni Staurenghi Ospedale Luigi Sacco, ASST Fatebenefratelli e Sacco, Milano - Italy
  • Ugo Trama Direzione Politica del Farmaco e dei Dispositivi Regione Campania, Napoli - Italy
  • Francesca Simonelli Università degli Studi della Campania Luigi Vanvitelli, Napoli - Italy

DOI:

https://doi.org/10.33393/ao.2023.2565

Keywords:

Congenital retinal dystrophies, Diagnostic-therapeutic pathway, Gene therapy, Leber congenital amaurosis, Value framework, Voretigene neparvovec

Abstract

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.

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References

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 DOI: https://doi.org/10.1167/iovs.63.2.13

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 DOI: https://doi.org/10.1016/j.ajo.2007.08.022

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 DOI: https://doi.org/10.1038/s41598-022-22180-6

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 DOI: https://doi.org/10.1167/tvst.10.10.11

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 DOI: https://doi.org/10.1186/s13023-021-01868-4

Published

2023-03-23

How to Cite

Bandello, F., Battaglia Parodi, M., Colombo, L., Giansanti, F., Mennini, F. S., Pani, M., Parmeggiani, F., Procoli, U., Rizzo, S., Scopinaro, A., Sodi, A., Staiano, A., Staurenghi, G., Trama, U., & Simonelli, F. (2023). Diagnostic-therapeutic pathway and organizational model for gene therapy in the administration of congenital retinal dystrophies in real-life. AboutOpen, 10(1), 55–59. https://doi.org/10.33393/ao.2023.2565
Received 2023-01-23
Accepted 2023-03-07
Published 2023-03-23