難病領域におけるレジストリ活用の動向～難病プラットフォームについて～

抄録

Rare diseases have been slow to progress in elucidating their pathogenesis and developing new drugs. Establishing a platform to facilitate drug discovery research and implementing a patient registry for rare diseases are crucial endeavors in this field. Moreover, the platform should serve to uncover pathological conditions through clinical epidemiological analysis and genomic and omics studies, while also fostering corporate collaboration to drive drug development forward.

The Rare Disease Data Registry of Japan (RADDAR–J) serves as an invaluable information hub, covering approximately half of the 338 designated intractable diseases. Its website offers comprehensive catalog information on rare disease research group registries and repositories, facilitating collaboration between these groups and corporate entities.

In recent times, there has been a notable rise in the utilization of patient registries in various aspects of pharmaceutical and product development, including post–marketing surveillance, disease control groups, and patient recruitment. This paper outlines the activities of the Rare Disease Platform and introduces trends in the utilization of real–world data in the field of rare diseases.