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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

dc.rights.licenseopenen_US
dc.contributor.authorMESSIAEN, Claude
dc.contributor.authorRACINE, Caroline
dc.contributor.authorKHATIM, Ahlem
dc.contributor.authorSOUSSAND, Louis
dc.contributor.authorODENT, Sylvie
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorMANOUVRIER, Sylvie
dc.contributor.authorEDERY, Patrick
dc.contributor.authorSIGAUDY, Sabine
dc.contributor.authorGENEVIEVE, David
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.contributor.authorPASQUIER, Laurent
dc.contributor.authorPETIT, Florence
dc.contributor.authorROSSI, Massimiliano
dc.contributor.authorWILLEMS, Marjolaine
dc.contributor.authorATTIE-BITACH, Tania
dc.contributor.authorROUX-LEVY, Pierre-Henry
dc.contributor.authorDEMOUGEOT, Laurent
dc.contributor.authorBEN SLAMA, Lilia
dc.contributor.authorLANDAIS, Paul
dc.contributor.authorTHE ANDDI-RARES, Network
dc.contributor.authorJANNOT, Anne-Sophie
dc.contributor.authorBINQUET, Christine
dc.contributor.authorSANDRIN, Arnaud
dc.contributor.authorVERLOES, Alain
dc.contributor.authorFAIVRE, Laurence
dc.date.accessioned2021-10-26T08:16:47Z
dc.date.available2021-10-26T08:16:47Z
dc.date.issued2021-08-04
dc.identifier.issn1750-1172en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/112870
dc.description.abstractEnBackground : In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007, most of these centers have entered the data for patients with developmental disorders into the CEMARA population-based registry, a national online data repository for all rare diseases. Through the CEMARA web portal, descriptive demographic data, clinical data, and the chronology of medical follow-up can be obtained for each center. We address the interest and ongoing challenges of this national data collection system 10 years after its implementation. Methods : Since 2007, clinicians and researchers have reported the “minimum dataset (MDS)” for each patient presenting to their expert center. We retrospectively analyzed administrative data, demographic data, care organization and diagnoses. Results : Over 10 years, 228,243 RD patients (including healthy carriers and family members for whom experts denied any suspicion of RD) have visited an expert center. Among them, 167,361 were patients affected by a RD (median age 11 years, 54% children, 46% adults, with a balanced sex ratio), and 60,882 were unaffected relatives (median age 37 years). The majority of patients (87%) were seen no more than once a year, and 52% of visits were for a diagnostic procedure. Among the 2,869 recorded rare disorders, 1,907 (66.5%) were recorded in less than 10 patients, 802 (28%) in 10 to 100 patients, 149 (5.2%) in 100 to 1,000 patients, and 11 (0.4%) in > 1,000 patients. Overall, 45.6% of individuals had no diagnosis and 6.7% had an uncertain diagnosis. Children were mainly referred by their pediatrician (46%; n = 55,755 among the 121,136 total children referrals) and adults by a medical specialist (34%; n = 14,053 among the 41,564 total adult referrals). Given the geographical coverage of the centers, the median distance from the patient’s home was 25.1 km (IQR = 6.3 km-64.2 km). Conclusions : CEMARA provides unprecedented support for epidemiological, clinical and therapeutic studies in the field of RD. Researchers can benefit from the national scope of CEMARA data, but also focus on specific diseases or patient subgroups. While this endeavor has been a major collective effort among French RD experts to gather large-scale data into a single database, it provides tremendous potential to improve patient care.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enData warehouse
dc.subject.enDevelopmental disorders
dc.subject.enEpidemiology
dc.subject.enRare disease
dc.title.en10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
dc.typeArticle de revueen_US
dc.identifier.doi10.1186/s13023-021-01957-4en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed34348744en_US
bordeaux.journalOrphanet Journal of Rare Diseasesen_US
bordeaux.volume16en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03403349
hal.version1
hal.date.transferred2021-10-26T08:16:55Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Orphanet%20Journal%20of%20Rare%20Diseases&rft.date=2021-08-04&rft.volume=16&rft.issue=1&rft.eissn=1750-1172&rft.issn=1750-1172&rft.au=MESSIAEN,%20Claude&RACINE,%20Caroline&KHATIM,%20Ahlem&SOUSSAND,%20Louis&ODENT,%20Sylvie&rft.genre=article


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