Orphan Drugs and Rare Diseases: Unveiling Biological Patterns through Drug Repurposing

Abstract

AbstractRare diseases are a collection of unusual pathologies that afflict millions of individuals globally. However, the creation of treatments for these conditions is frequently limited due to the high expenses and lack of profitability associated with drug development. Orphan drugs, which are medications specifically designed for rare diseases, have played a pivotal role in treating these diseases over the past several years. Nevertheless, their creation remains challenging, and many rare diseases lack approved therapies. Therefore, drug repurposing has emerged as a viable strategy for identifying potential new treatments for these pathologies, a technique consists in using existing drugs to treat a new disease different from the one that they were developed for. This approach can significantly reduce the time and cost of drug development while increasing the likelihood of success. In this paper, we examined the temporal progression of orphan drugs since their introduction and assess the impact of drug repositioning on treatments for rare diseases. Additionally, we aim to identify biological patterns that may be unique to rare diseases treated with repurposed orphan drugs. To this end, we analyzed various biological components associated with these diseases, categorized linked diseases, and obtained the type of orphan drug associated with them. Lastly, we evaluated the phenotypic similarity between diseases treated with an orphan drug through repurposing. Through these findings, we have gained insight into the evolution of orphan drug development in recent years and identified specific patterns that characterize rare diseases associated with them.