Amaral Margarida D
BioISI - Biosystems & Integrative Sciences Institute, Lisboa, Faculty of Sciences, University of Lisboa, Portugal.
Curr Opin Pharmacol. 2022 Apr;63:102201. doi: 10.1016/j.coph.2022.102201. Epub 2022 Mar 4.
The greatest challenge of current biomedicine is to identify curative therapies for every disease in a personalized way so that every individual gets benefit. To that end, however, we need fully understand mechanisms of disease that will drive the design of novel therapies and innovative approaches. For rare diseases (RDs) which individually affect low numbers of people (< 1:2000), but together, affect 300 million (∼10% of the world population) the constraints are greater. This is because: 1) there is limited knowledge on RD physiopathology; 2) the low number of patients strongly limits clinical trials; 3) there is low commercial interest by pharma; 4) when specific drugs reach the market, their high cost precludes their reaching all those who need them. Several possibilities that can help mitigate these barriers are discussed here, including orphan drug designation, drug repurposing, break-down into theratypes (as currently in place for Cystic Fibrosis), or novel precision-medicine-based approaches.
当前生物医学面临的最大挑战是以个性化方式为每种疾病确定治愈性疗法，使每个人都能受益。然而，要实现这一目标，我们需要全面了解疾病机制，以推动新型疗法和创新方法的设计。对于罕见病（RDs），每种疾病影响的人数较少（<1:2000），但总体上影响着3亿人（约占世界人口的10%），限制因素更多。这是因为：1）对罕见病生理病理学的了解有限；2）患者数量少严重限制了临床试验；3）制药公司的商业兴趣低；4）当特定药物上市时，其高昂的成本使许多有需要的人无法获得。本文讨论了几种有助于缓解这些障碍的可能性，包括孤儿药指定、药物重新利用、按治疗类型分类（如目前对囊性纤维化所做的那样）或基于新型精准医学的方法。
