Department of Biology, University of Napoli "Federico II", Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Napoli, Italy.
Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy.
Genes (Basel). 2024 Feb 25;15(3):290. doi: 10.3390/genes15030290.
Rare diseases, or orphan diseases, are defined as diseases affecting a small number of people compared to the general population. Among these, we find lysosomal storage disorders (LSDs), a cluster of rare metabolic diseases characterized by enzyme mutations causing abnormal glycolipid storage. Drug repositioning involves repurposing existing approved drugs for new therapeutic applications, offering advantages in cost, time savings, and a lower risk of failure. We present a comprehensive analysis of existing drugs, their repurposing potential, and their clinical implications in the context of LSDs, highlighting the necessity of mutation-specific approaches. Our review systematically explores the landscape of drug repositioning as a means to enhance LSDs therapies. The findings advocate for the strategic repositioning of drugs, accentuating its role in expediting the discovery of effective treatments. We conclude that drug repurposing represents a viable pathway for accelerating therapeutic discovery for LSDs, emphasizing the need for the careful evaluation of drug efficacy and toxicity in disease-specific contexts.
罕见病,又称孤儿病,是指与普通人群相比,患病人数较少的疾病。其中包括溶酶体贮积症(LSDs),这是一组罕见的代谢性疾病,其特征是酶突变导致异常糖脂贮积。药物重定位涉及将现有的已批准药物重新用于新的治疗应用,具有成本低、节省时间和失败风险低的优势。我们对 LSDs 中现有药物、其重新定位潜力及其临床意义进行了全面分析,强调了针对突变的方法的必要性。我们的综述系统地探讨了药物重定位作为增强 LSDs 治疗方法的手段。研究结果主张战略性地重新定位药物,强调其在加速发现有效治疗方法方面的作用。我们得出结论,药物重定位代表了加速 LSD 治疗发现的可行途径,强调需要在特定疾病背景下仔细评估药物的疗效和毒性。