リアルワールドデータ・エビデンスを活用した研究推進に向けて　―アカデミアが貢献する難病プラットフォームを含めた基盤の整備―

抄録

The elucidation of rare disease pathogenesis and the development of novel therapeutics have traditionally progressed at a slow pace. To overcome this, establishing a comprehensive platform that facilitates drug discovery and the creation of patient registries for rare diseases is urgently needed. Such a platform should not only accelerate drug development but also enhance the understanding of disease mechanisms through clinical epidemiological studies and genomic and multi–omics analyses. Additionally, fostering collaborations between academia and industry is essential for translating research into therapeutic breakthroughs more rapidly.

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

In recent years, patient registries have increasingly been used across various stages of pharmaceutical development, including post–marketing surveillance, cohort studies on disease progression, and patient recruitment for clinical trials. This paper provides a comprehensive overview of the activities conducted under the Rare Disease Platform and explores emerging trends in the application of real–world data (RWD) and real–world evidence (RWE) in the study and treatment of rare diseases.