Trends in real world data utilization in rare diseases

Abstract

The Rare diseases have been slow to make progress in elucidating their pathogenesis and developing new drugs. In the area of rare diseases, it is important to build a platform to promote drug discovery research, and it is important to establish a patient registry for rare diseases. Furthermore, the platform should be used to elucidate pathological conditions through clinical epidemiological analysis and genomic and omics analysis, as well as to promote drug development through the promotion of corporate collaboration.

The Rare Disease Data Registry of Japan (RADDAR–J) is an intractable disease information platform that covers approximately half of the 338 designated intractable diseases. The website provides catalog information on the registries and repositories of rare disease research group and promotes collaboration between rare disease research groups and pharmaceutical companies.

Recently, there has been an increase in the number of cases in which patient registries are utilized in the development of pharmaceuticals and other products, such as 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 area of rare diseases.