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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