Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Journal
Eye (London, England)
ISSN: 1476-5454
Titre abrégé: Eye (Lond)
Pays: England
ID NLM: 8703986
Informations de publication
Date de publication:
16 Apr 2024
16 Apr 2024
Historique:
received:
05
09
2023
accepted:
04
04
2024
revised:
06
03
2024
medline:
17
4
2024
pubmed:
17
4
2024
entrez:
16
4
2024
Statut:
aheadofprint
Résumé
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. 摘要: RPE65基因的双等位基因突变导致近8%的先天性黑蒙症和2%的视网膜色素变性。Voretigene neparvovec (VN) 是第一个批准用于以上两种疾病基因治疗的药物。迄今为止, 实践经验表明, VN治疗后患者的功能有所改善, 这与临床试验结果一致。然而, 目前还没有就VN治疗的患者适应症的特点达成共识。我们查阅了相关文献, 以回答 VN上市后是否可以提出患者适应症的建议。遵循目标性综述的审查方法, 并通过六个研究问题筛选了166篇论文: (1) VN治疗适应症中考虑的临床和遗传特征； (2) 治疗前和随访中使用的心理物理学检测以及影像学分析； (3) 视觉功能和视网膜结构之间潜在的相关性, 可用于定义治疗对疾病进展的影响； (4) 视网膜变性； (5) 最先进的临床检查方法；以及 (6) 外科手术对治疗结果的影响。目前关于临床中的适应症的差别, 如治疗前的特征以及之后的结果, 并没有在所有研究中得到统一结论。视网膜变性不能定义为患者适应症的唯一因素, 尽管有证据表明, 挽救视功能的潜力与治疗前光感受器的保护有关。一般来说, 儿科患者保留了更多的活细胞, 病情较轻, 表现出最大的改善潜力, 成为最适合治疗的候选者。.
Autres résumés
Type: Publisher
(chi)
摘要: RPE65基因的双等位基因突变导致近8%的先天性黑蒙症和2%的视网膜色素变性。Voretigene neparvovec (VN) 是第一个批准用于以上两种疾病基因治疗的药物。迄今为止, 实践经验表明, VN治疗后患者的功能有所改善, 这与临床试验结果一致。然而, 目前还没有就VN治疗的患者适应症的特点达成共识。我们查阅了相关文献, 以回答 VN上市后是否可以提出患者适应症的建议。遵循目标性综述的审查方法, 并通过六个研究问题筛选了166篇论文: (1) VN治疗适应症中考虑的临床和遗传特征； (2) 治疗前和随访中使用的心理物理学检测以及影像学分析； (3) 视觉功能和视网膜结构之间潜在的相关性, 可用于定义治疗对疾病进展的影响； (4) 视网膜变性； (5) 最先进的临床检查方法；以及 (6) 外科手术对治疗结果的影响。目前关于临床中的适应症的差别, 如治疗前的特征以及之后的结果, 并没有在所有研究中得到统一结论。视网膜变性不能定义为患者适应症的唯一因素, 尽管有证据表明, 挽救视功能的潜力与治疗前光感受器的保护有关。一般来说, 儿科患者保留了更多的活细胞, 病情较轻, 表现出最大的改善潜力, 成为最适合治疗的候选者。.
Identifiants
pubmed: 38627549
doi: 10.1038/s41433-024-03065-6
pii: 10.1038/s41433-024-03065-6
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
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