CEMARA: a Web dynamic application within a N-tier architecture for rare diseases

Area of Science:

• Medical Informatics
• Public Health
• Epidemiology

Background:

• Rare diseases affect a significant portion of the population, posing a public health challenge due to limited treatment options.
• In France, a National Rare Diseases Plan was established to address these challenges.
• Reference Centres (RC) play a crucial role in managing rare diseases.

Purpose of the Study:

• To describe the CEMARA information system, designed for collecting and managing rare disease patient data.
• To outline CEMARA's contribution to the missions of Reference Centres, including activity registration, network coordination, and patient follow-up.
• To present the epidemiological patterns and data collected through the CEMARA system.

Main Methods:

• Development and implementation of a shared Information System (CEMARA) by 25 French Reference Centres.
• Continuous and complete data collection of rare disease patients and their follow-up.
• Cooperation with Orphanet and Genatlas for enhanced data management and accessibility.

Main Results:

• CEMARA collects comprehensive records for rare disease patients.
• Over 11,803 patient records have been collected.
• Data is contributed by more than 300 healthcare professionals across over 70 sites.

Conclusions:

• CEMARA serves as a vital tool for the registration, description, and analysis of rare disease activities.
• The system facilitates the coordination of a network of healthcare professionals dedicated to rare diseases.
• CEMARA contributes to a better understanding of epidemiological patterns for rare diseases in France.