National Rare Disease Registration Project in the Republic of Korea: Current Status and Policy Directions

Rare diseases are characterized by having a small number of patients with the given condition and the frequent absence of established diagnostic and therapeutic guidelines, which makes it difficult to build the evidence base that is necessary for patient management and policy development. In response to this, the Korea Disease Control and Prevention Agency (KDCA) launched the National Rare Disease Registration Project, which is intended to systematically collect and analyze data on patients' diagnostic and treatment status as well as the characteristics of the disease.

This study evaluated the achievements and limitations of the project drawing on the implementation results of the pilot and main phase, on-site assessments, and international case studies.

The project achieved key milestones through the establishment of an operational framework, the development of a registry management system, and links it with related institutional systems to facilitate data collection and analysis. However, certain challenges remain, including the limited amount of data coverage due to institutional workload and lack of dedicated personnel, the need for standardized registration criteria, and the expansion of linked administrative and clinical data.

Moving forward, the KDCA aims to establish a systematic and standardized data collection foundation to secure reliable, large-scale datasets and strengthen the institutional framework for data utilization, contributing to the development of evidence-based rare disease management policies.