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CEMARA an information system for rare diseases.

Paul Landais¹, Claude Messiaen, Ana Rath

¹Paris Descartes University, Faculty of Medicine, AP-HP, EA 4067, Department of biostatistics and computer sciences, and Department of genetics, Dermatology unit Necker-Enfants Malades Hospital, Paris, France.

Studies in Health Technology and Informatics

|September 16, 2010

Summary

CEMARA, a rare disease information system, collects patient data to analyze epidemiological patterns and improve care. It successfully created a shared platform and ontology, enhancing patient care and research for rare diseases.

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Area of Science:

Epidemiology
Public Health
Medical Informatics

Background:

Rare diseases affect fewer than 1 in 2,000 people, with many lacking curative treatments.
Over 5,000 to 7,000 rare diseases are identified in Europe, posing a significant public health challenge.
Effective management requires robust data collection and analysis systems.

Purpose of the Study:

To establish and analyze epidemiological patterns of rare diseases using a web-based information system.
To improve the match between national demand for and offer of care for rare diseases.
To foster collaboration and data sharing among healthcare professionals and institutions.

Main Methods:

Implementation of a n-tier architecture for the CEMARA (Centre d'Évaluation des Maladies Rares) information system.
Continuous collection and follow-up of patient records from multiple clinical sites and healthcare professionals.
Analysis of epidemiological data and exploration of care demand versus supply.

Main Results:

CEMARA registered 56,593 cases from 171 clinical sites involving over 850 healthcare professionals.
The system facilitated the sharing of a common platform and ontology with Orphanet.
Initiation of new rare disease cohorts for enhanced patient care and research was stimulated.

Conclusions:

CEMARA provides a valuable platform for collecting and analyzing rare disease data.
The system has successfully promoted collaboration and data standardization.
CEMARA contributes to improving patient care and advancing research in the field of rare diseases.