希少難病のドラッグラグ・ドラッグロスの解決に資する基盤を目指して　～難病プラットフォームについて～

抄録

Elucidating the pathogenesis of rare diseases and developing novel therapeutics have traditionally been slow processes. To address these challenges, a comprehensive platform is urgently needed to facilitate drug discovery and the establishment of patient registries for rare diseases. Such a platform should not only accelerate drug development but also enhance our understanding of disease mechanisms through clinical epidemiology, genomics, and multi–omics analyses. Additionally, fostering collaboration between academia and industry is crucial for more efficiently translating research into therapies.

The Rare Disease Data Registry of Japan (RADDAR–J) serves as a vital repository, encompassing nearly half of the 341 designated intractable diseases. Its publicly accessible database catalogs registries and biorepositories managed by rare disease research groups, thereby promoting cooperation between academia and industry.

Patient registries are increasingly utilized in pharmaceutical development including post–marketing surveillance, disease progression studies, and clinical trial recruitment. This paper provides an overview of the Rare Disease Platform's activities and examines emerging trends in the use of real–world data (RWD) and real–world evidence (RWE) for rare disease research and treatment.