Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.

Autor: Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Bacci G; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Falsini B; Università Cattolica del Sacro Cuore, Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy., Iarossi G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy., Melillo P; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Mucciolo DP; Ophthalmology Unit, S. Jacopo Hospital, Pistoia, Italy.; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Murro V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.; Eye Clinic, Careggi Teaching Hospital, Florence, Italy., Salvetti AP; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, Milan, Italy. paola.anna.salvetti@gmail.com., Sodi A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Staurenghi G; Eye Clinic, Department of Biomedical and Clinical Science, Luigi Sacco Hospital, University of Milan, Milan, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
Jazyk: angličtina
Zdroj: Eye (London, England) [Eye (Lond)] 2024 Sep; Vol. 38 (13), pp. 2504-2515. Date of Electronic Publication: 2024 Apr 16.
DOI: 10.1038/s41433-024-03065-6
Abstrakt: Biallelic mutations in the RPE65 gene affect nearly 8% of Leber Congenital Amaurosis and 2% of Retinitis Pigmentosa cases. Voretigene neparvovec (VN) is the first gene therapy approach approved for their treatment. To date, real life experience has demonstrated functional improvements following VN treatment, which are consistent with the clinical trials outcomes. However, there is currently no consensus on the characteristics for eligibility for VN treatment. We reviewed relevant literature to explore whether recommendations on patient eligibility can be extrapolated following VN marketing. We screened 166 papers through six research questions, following scoping reviews methodology, to investigate: (1) the clinical and genetic features considered in VN treatment eligibility; (2) the psychophysical tests and imaging modalities used in the pre-treatment and follow-up; (3) the potential correlations between visual function and retinal structure that can be used to define treatment impact on disease progression; (4) retinal degeneration; (5) the most advanced testing modalities; and (6) the impact of surgical procedure on treatment outcomes. Current gaps concerning patients' eligibility in clinical settings, such as pre-treatment characteristics and outcomes are not consistently reported across the studies. No upper limit of retinal degeneration can be defined as the univocal factor in patient eligibility, although evidence suggested that the potential for function rescue is related to the preservation of photoreceptors before treatment. In general, paediatric patients retain more viable cells, present a less severe disease stage and show the highest potential for improvements, making them the most suitable candidates for treatment.
(© 2024. The Author(s).)
Databáze: MEDLINE
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