ITMO Santé Publique
ITMO Santé Publique
Date de modification : 03/01/2017 | Version : 1 | ID : 73376
| Général | |
| Identification | |
| Nom détaillé | National cohort on the vascular Ehlers-Danlos syndrome (SEDv) |
| Sigle ou acronyme | RaDiCo-SEDVasc |
| Numéro d'enregistrement (ID-RCB ou EUDRACT, CNIL, CPP, etc.) | CCTIRS n° 15.955 - Decision CNIL n°DR-2016-265 |
| Thématiques générales | |
| Domaine médical |
Cardiology Disability/handicap Gastroenterology et hepatology Neurology Pneumology Radiology and medical imaging Rare diseases |
| Pathologie, précisions | Thin translucent skin; Arterial/intestinal/uterine fragility or rupture; Extensive bruising |
| Déterminants de santé |
Genetic Healthcare system and access to health care services Lifestyle and behavior Medicine Occupation Social and psychosocial factors |
| Responsable(s) scientifique(s) | |
| Nom du responsable | JEUNEMAITRE |
| Prénom | Xavier |
| Adresse |
Service de génétique / Centre National de référence des Maladies vasculaires Rares Hôpital Européen Georges Pompidou (HEGP) 20-40, rue Leblanc 75908 Paris Cedex FRANCE |
| Téléphone | +33 (0)1 56 09 38 81 / +33 (0)1 56 09 50 41 |
| xavier.jeunemaitre@aphp.fr | |
| Laboratoire | Inserm UMR S 970 |
| Organisme | Institut National de la Santé et de la Recherche Médicale / French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation à des projets, des réseaux, des consortiums |
Yes |
| Précisions | European Reference Network |
| Financements | |
| Financements |
Public |
| Précisions | Funded by the French « Investissements d’Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. |
| Gouvernance de la base de données | |
| Organisation(s) responsable(s) ou promoteur | Inserm |
| Statut de l’organisation |
Secteur Public |
| Existence de comités scientifique ou de pilotage |
Yes |
| Labellisations et évaluations de la base de données | Security audit certification of the database |
| Contact(s) supplémentaire(s) | |
| Caractéristiques | |
| Type de base de données | |
| Type de base de données |
Morbidity registers |
| Objectif de la base de données | |
| Objectif principal |
Main objective
The main objective of this study is to describe the natural course of vascular Ehlers-Danlos syndrome, in particular the order of appearance of different types of complications (arterial, digestive, pulmonary and uterine). Secondary objectives are: 1. To study the prospective genotype-phenotype relationships; 2. To study the intra familial phenotypes relationships; 3. To assess the global cost of vEDS cares, including the standard pathway and the cares. 4. To assess the effect of different therapies on the occurrence of new sites of arterial dissection/rupture and the corresponding morbidity and mortality ; 5. To assess the correlation between the diffusion of arterial lesions and the occurrence of cardio-vascular complications (ie: identification of severity criterion); 6. To assess the quality of life of vEDS patients and the impact of the disease on professional activity. |
| Critères d'inclusion |
Patients eligible for inclusion in this study have to fulfil all of the following criteria:
- Patients (adults and children) with genetically-proven vEDS (presence of a pathogenic mutation at the COL3A1 gene); - With a signed informed consent for adults or signed informed consent of parents/guardians for minors/major protected. There are no exclusion criteria for this study. |
| Type de population | |
| Age |
Childhood (6 to 13 years) Adolescence (13 to 18 years) Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) Elderly (65 to 79 years) Great age (80 years and more) |
| Population concernée |
Sick population |
| Pathologie | I73 - Other peripheral vascular diseases |
| Sexe |
Male Woman |
| Champ géographique |
National |
| Détail du champ géographique | European extension envisaged |
| Collecte | |
| Dates | |
| Année du premier recueil | 2016 |
| Année du dernier recueil | 2021 |
| Taille de la base de données | |
| Taille de la base de données (en nombre d'individus) |
< 500 individuals |
| Détail du nombre d'individus | 340 subjects targeted |
| Données | |
| Activité de la base |
Current data collection |
| Type de données recueillies |
Clinical data Declarative data Paraclinical data Biological data Cost data |
| Données cliniques, précisions |
Direct physical measures Medical registration |
| Détail des données cliniques recueillies | • Set 1: Patient’s characteristics at inclusion: personal information, status within pedigree vital status, diagnosis, last follow-up, initiation of therapy, molecular diagnosis (type and group of mutation of COL3A1 gene), presence or not of diagnostic criteria (phenotype) and first arterial assessment (mandatory for all patients), the latter being the baseline comparator for the primary objective of this cohort study. Set 2: - age of the diagnosis with the use of biochemical or molecular genetic studies;- physical characteristics (characteristic facial features, thin skin with visible veins, easy bruising, and increased joint mobility of the hands);- causes of death : arterial rupture, organ rupture (uterus, heart, Liver or spleen), gastrointestinal rupture, other causes;- medical and surgical complications : arterial dissection or rupture, spontaneous bowel perforation, or organ rupture;- age at the time of a first complication;- arterial complications and surgical outcome : thoracic, abdominal, head, neck, limbs, central nervous system (fistulae involving the carotid artery and cavernous sinus, carotidartery dissection, aneurysm, and rupture);- gastrointestinal complications and surgical outcome: sigmoid colon, perforation of the small, gastric perforation, rupture of the gastrointestinal tract, dehiscence of the wound, evisceration, haemorrhage of abdominal vessels, fistulas, and adhesions;- nature and location of mutations in the gene for type III procollagen (COL3A1);- outcome of pregnancy: abortion, death, live-born infants at term, complications of pregnancy, affected child;- lifestyle modification;- medication. |
| Données déclaratives, précisions |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Détail des données déclaratives recueillies | SF-36 (adults) / SF-10 (children), Hamilton |
| Données biologiques, précisions | Routine blood measurements are :- Hematology (hemoglobin, hematocrit, leucocytes and platelets);- Blood chemistry (sodium, potassium, calcium, chloride, creatinine, fasting blood glucose, albumin, total protein, triglycerides, total cholesterol, HDL-cholesterol, LDL-cholesterol ASAT, ALAT, gamma GT). |
| Données de coût, précisions | The economic analysis is about evaluating the global cost of vEDS, including the standard pathway and the cares. To avoid the risk of counting twice the same cares, the two levels of costs must be dissociated. Direct medical costs consist of monitoring and hospital costs. Hospital stays are valued according to the French decree (published yearly) for inpatient or outpatient stays. These data will be collected in collaboration with the French DRG manager for each participating center. Monitoring costs correspond to drugs, biological exams, radiology, consultations, physiotherapist care, home nursing care or any other form of care. They are valued according to the corresponding nomenclatures in force (NABM, NGAP, AMK ...). For external or private activity, the classifications in force will be used.Direct non-medical costs such as ambulance transport will be collected. |
| Existence d’une biothèque |
Yes |
| Contenu de la biothèque |
DNA |
| Paramètres de santé étudiés |
Health event/morbidity Health event/mortality Health care consumption and services Quality of life/health perception |
| Consommation de soins, précisions |
Hospitalization Medical/paramedical consultation Medicines consumption |
| Qualité de vie/santé perçue, précisions | quality of life (SF-36 (adults) / SF-10 (children), Hamilton). |
| Modalités | |
| Mode de recueil des données | eCRF using REDCap; Cloud based, secure by design web accessible platform. Certified Health Data Hosting resource |
| Nomenclatures employées | HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs) |
| Procédures qualité utilisées | Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system |
| Suivi des participants |
Yes |
| Modalités de suivi des participants |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor |
| Pathologie suivies | I73 - Other peripheral vascular diseases |
| Appariement avec des sources administratives |
Yes |
| Sources administratives appariées, précisions | PMSI, AMELI, NABM, CCAM, NGAP, AMI, AMK |
| Valorisation et accès | |
| Valorisation et accès | |
| Accès | |
| Existence d’un document qui répertorie les variables et les modalités de codage |
Yes |
| Charte d'accès aux données (convention de mise à disposition, format de données et délais de mise à disposition) | Access requests to RaDiCo -SEDVasc data (rough / structured), biocollections or to analytic reports will be examined by the scientific committee following submission of a Specific Research Project (SRP) synopsis, as defined in the Resource Access Charter. Must be sent to sedvasc@radico.fr |
| Accès aux données agrégées |
Access on specific project only |
| Accès aux données individuelles |
Access on specific project only |
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