Coordinator : Pr Xavier Jeunemaître

LIMICS manager : TOUBIANA Laurent

LIMICS other members : Marie-Christine Jaulent - Jérémie Riquier

Summary :

Since 2006, the national Reference Center for Rare Vascular Diseases (CRMVR), based in the Georges Pompidou European Hospital in Paris, has centralised the care and research for the Vascular Ehlers-Danlos syndrome (vEDS). This disease is a rare inherited disease caused by mutations in the COL3A1 gene leading to defective type III collagen. vEDS is a rare autosomal dominant fully penetrant disease (estimated freq 1/250,000) with probably 300-500 affected families in France. This unique population of patients and families is to our knowledge the largest prospective active cohort worldwide. The LIMICS "Laboratory Medical Informatics and Knowledge Engineering", Inserm UMRS 1142, is a leading laboratory in knowledge engineering and medical semantics. Through the creation of a prospective database, accessible via the Web for both the CRMVR and the 14 competence centers, with items describing clinical, biological, radiological and therapeutic characteristics of each patient, our “COHORT- NAT-SEDv” proposal has the following objectives:

i) The establishment of a national database of the pathology, having satisfied all technical and regulatory requirements and for which variables are internationally exchangeable.

ii) An estimation of the health cost of this rare but severe disease by recording the number of outpatients and inpatients visits including imaging examinations, hospitalizations for complications, morbidity and mortality.

iii) The study of the precise natural history of the disease and in particular the relationships between major and minor signs of the disease, different types of complications (arterial, digestive, lung, uterine), and prospective genotype -phenotype relationships.

iv) The prospective assessment – in an open blind fashion - of the beneficial effect of celiprolol especially on the occurrence of new sites of arterial dissection/rupture and the corresponding morbidity and mortality

v) The facilitation of patients recruitment to future national and even international trials.

To achieve these goals, we must implement a high-level information system that meets the international standards and requirements. Thus, the initial goal is to establish a platform for the interactive collection and management of patient data, but also to secure the use and acquisition of these data and the possibility of European and International expansions.

Partners

INSERM - HEGP APHP - RaDiCo