CEMARA an information system for rare diseases.
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.
Landais
Paul
P
Paris 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.
Messiaen
Claude
C
Rath
Ana
A
Le Mignot
Loïc
L
Dufour
Eric
E
Ben Said
Mohamed
M
Jais
Jean-Philippe
JP
Toubiana
Laurent
L
Baujat
Geneviève
G
Bourdon-Lanoy
Eva
E
Gérard-Blanluet
Marion
M
Bodemer
Christine
C
Salomon
Rémi
R
Aymé
Ségolène
S
Le Merrer
Martine
M
Verloes
Alain
A
D003628:Database Management Systems; D016208:Databases, Factual; D005602:France; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods*; D016347:Medical Records Systems, Computerized; D015995:Prevalence; D035583:Rare Diseases / Q000453:epidemiology*; D018571:Sentinel Surveillance