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

• Published in: Aboutopen Vol. 10; pp. 55 - 59
• Main Authors: Bandello, Francesco, Battaglia Parodi, Maurizio, Colombo, Leonardo, Giansanti, Fabrizio, Mennini, Francesco Saverio, Pani, Marcello, Parmeggiani, Francesco, Procoli, Ugo, Rizzo, Stanislao, Scopinaro, Annalisa, Sodi, Andrea, Staiano, Annamaria, Staurenghi, Giovanni, Trama, Ugo, Simonelli, Francesca
• Format: Journal Article
• Language: English
• Published: 23-03-2023
• ISSN: 2465-2628; 2465-2628
• DOI: 10.33393/ao.2023.2565

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.