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Rare diseases cover a group of conditions characterized by a low prevalence, affecting less than 1 in 2,000 people; 5000 to 7000 rare diseases have been currently identified in Europe. Most diseases do not have any curative treatment. They represent thus an important public health concern. CEMARA is based on a n-tier architecture. Its main objective is to collect continuous and complete records of patients with rare diseases, and their follow-up through a web-based Information System, and to analyse the epidemiological patterns. In France, 41 out of 131 labelled Reference Centres (RC) are sharing CEMARA. Presently 56,593 cases have been registered by more than 850 health care professionals belonging to 171 clinical sites. The national demand of care was explored in relation with the offer of care in order to reach an improved match. Within 2 years, CEMARA stimulated sharing a common platform, a common ontology with Orphanet and initiating new cohorts of rare diseases for improving patient care and research.

Data exchange and interoperability between clinical information systems represent a crucial issue in the context of patient record data collection. An XML representation schema adapted to end-stage renal disease (ESRD) patients was developed and successfully tested against patient data in the dedicated Multi-Source Information System (MSIS) active file (more than 16,000 patient records). The ESRD-XML-Schema is organized into Schema subsets respecting the coherence of the clinical information and enriched with coherent data types. Tests are realized against XML-data files generated in conformity with the ESRD-XML Schema. Manual tests allowed the XML schema validation of the data format and content. Programmatic tests allowed the design of generic XML parsing routines, a portable object data model representation and the implementation of automatic data-exchange flows with the MSIS database system. The ESRD-XML-Schema represents a valid framework for data exchange and supports interoperability. Its modular design offers opportunity to simplify physicians' multiple tasks in order to privilege their clinical work.

A Multi-Source Information System (MSIS) has been designed for the Renal Epidemiology and Information Network (REIN) dedicated to End-Stage Renal Disease. Interoperability has been considered at 4 levels: semantics, network, formats and contents. An n-tier architecture has been chosen at the network level. It is made out of a universal client, a dynamic Web server connected to a production database and to a data warehouse. The MSIS is patient-oriented, based on a regional organization. Its implementation in the context of a regional experimentation is presented with insights on the design and underlying technologies. The n-tier architecture is a robust model and flexible enough to aggregate multiple information sources and integrate modular developments. The data warehouse is dedicated to support health care decision-making.