The RaDiCo information system for rare disease cohorts

Area of Science:

• Medical Informatics
• Genomics
• Epidemiology

Background:

• Rare diseases (RDs) present significant challenges in clinical care and research due to patient dispersion and limited data resources.
• Existing databases are often local, small, incomplete, and lack standardization, hindering interoperability and interdisciplinary cooperation.
• There is a critical need for a coordinated, secure, and interoperable framework to generate high-quality deep phenotyping and molecular data from RD cohorts.

Purpose of the Study:

• To present the Information System (IS) of the RaDiCo program, a national operational platform for developing rare disease e-cohorts.
• To establish a coordinated, mutualized, secure, and interoperable framework for generating high-quality RD data.
• To facilitate the creation and management of national RD e-cohorts.

Main Methods:

• The RaDiCo platform is cloud-based, promoting process and service mutualization for clinical epidemiology and IS.
• Its IS incorporates an interoperability framework with unique RD identifiers, data standardization, FAIR principles, secure data exchange, and GDPR compliance.
• A secure, open-source web application enables online database management and patient data collection.

Main Results:

• The RaDiCo IS is efficient, currently hosting 13 e-cohorts covering 67 distinct rare diseases.
• As of April 2024, 8063 patients have been recruited from 180 specialized RD sites across France.
• The system ensures continuous monitoring of data quality and consistency.

Conclusions:

• RaDiCo functions as a national infrastructure for developing rare disease e-cohorts without size or number limitations.
• The IS is GDPR-compliant, compatible with the French National Health Data Hub, and extendable to European Reference Networks (ERNs) for rare diseases.
• RaDiCo provides a robust platform for the creation, monitoring, and analysis of rare disease e-cohorts.