User Centered Rare Disease Clinical Trial Knowledge Graph (RCTKG).

Area of Science:

• Biomedical Informatics
• Clinical Trial Management
• Rare Disease Research

Background:

• Drug development for rare diseases faces significant hurdles due to small patient populations and high costs.
• Analyzing existing clinical trials is crucial for understanding orphan drug development and informing future research.
• Limited data accessibility and standardization hinder efficient rare disease clinical trial analysis.

Purpose of the Study:

• To develop a user-centered Rare Disease Clinical Trial Knowledge Graph (RCTKG).
• To integrate publicly available clinical trial data with rare disease information from the Genetic and Rare Disease (GARD) program.
• To provide a semantic and standardized resource for public use, supporting rare disease research and clinical practice.

Main Methods:

• User stories were defined for patients, healthcare providers, and informaticians to guide the knowledge graph design.
• Publicly available clinical trial data will be integrated with rare disease information.
• A semantic and standardized data model will be employed for the RCTKG.

Main Results:

• The project aims to create a comprehensive knowledge graph for rare disease clinical trials.
• The RCTKG will facilitate better understanding of the clinical development status of orphan drugs.
• User-centered design ensures the knowledge graph meets the needs of diverse stakeholders.

Conclusions:

• The developed RCTKG will serve as a valuable resource for the rare disease community.
• It will support the GARD program at NCATS/NIH and the broader clinical/research community.
• This initiative aims to improve the efficiency and success rate of rare disease drug development.