Confalonieri Filippo, La Rosa Antonio, Ottonelli Giovanni, Barone Gianmaria, Ferraro Vanessa, Di Maria Alessandra, Romano Mary, Randazzo Alessandro, Vallejo-Garcia Josè Luis, Vinciguerra Paolo, Petrovski Goran
Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, 20090 Milan, Italy.
Department of Ophthalmology, IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy.
J Clin Med. 2024 Aug 9;13(16):4680. doi: 10.3390/jcm13164680.
Retinitis pigmentosa (RP) is a group of hereditary retinal dystrophies characterized by progressive degeneration of photoreceptor cells, which results in debilitating visual impairment. This systematic review aims to evaluate the efficacy and safety of emerging treatment modalities for RP, including gene therapy, mesenchymal-cell-based approaches, and supplementary interventions. A comprehensive search of electronic databases was conducted to identify relevant studies published up to February 2024. Studies reporting outcomes of treatment interventions for RP, including randomized controlled trials, non-randomized studies, and case series, were included. Data extraction and synthesis were performed according to predefined criteria, focusing on assessing the quality of evidence and summarizing key findings. The search yielded 13 studies meeting inclusion criteria, encompassing diverse treatment modalities and study designs. Gene therapy emerged as a promising therapeutic approach, with several studies reporting favorable outcomes regarding visual function preservation and disease stabilization. Mesenchymal-cell-based therapies also demonstrated potential benefits, although evidence remains limited and heterogeneous. Supplementary interventions, including nutritional supplements and neuroprotective agents, exhibited variable efficacy, with conflicting findings across studies. Despite the lack of definitive curative treatments, emerging therapeutic modalities promise to slow disease progression and preserve visual function in individuals with RP. However, substantial gaps in evidence and heterogeneity in study methodologies underscore the need for further research to elucidate optimal treatment strategies, refine patient selection criteria, and enhance long-term outcomes. This systematic review provides a comprehensive synthesis of current evidence and highlights directions for future research to advance the care and management of individuals with RP.
视网膜色素变性（RP）是一组遗传性视网膜营养不良疾病，其特征是光感受器细胞进行性退化，导致视力严重受损。本系统评价旨在评估RP新兴治疗方法的疗效和安全性，包括基因治疗、基于间充质细胞的方法和辅助干预措施。对电子数据库进行了全面检索，以确定截至2024年2月发表的相关研究。纳入了报告RP治疗干预结果的研究，包括随机对照试验、非随机研究和病例系列。根据预定义标准进行数据提取和综合，重点评估证据质量并总结主要发现。检索结果产生了13项符合纳入标准的研究，涵盖了不同的治疗方式和研究设计。基因治疗成为一种有前景的治疗方法，几项研究报告了在视觉功能保存和疾病稳定方面的良好结果。基于间充质细胞的疗法也显示出潜在益处，尽管证据仍然有限且存在异质性。辅助干预措施，包括营养补充剂和神经保护剂，疗效各异，各研究结果相互矛盾。尽管缺乏明确的治愈性治疗方法，但新兴治疗方式有望减缓RP患者的疾病进展并保存视觉功能。然而，证据方面存在重大差距以及研究方法的异质性凸显了进一步研究的必要性，以阐明最佳治疗策略、完善患者选择标准并改善长期预后。本系统评价全面综合了当前证据，并突出了未来研究方向，以推进RP患者的护理和管理。
