ITMO public health
Last update : 01/03/2017 | Version : 1 | ID : 73376
| General | |
| Identification | |
| Detailed name | National cohort on the vascular Ehlers-Danlos syndrome (SEDv) |
| Sign or acronym | RaDiCo-SEDVasc |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CCTIRS n° 15.955 - Decision CNIL n°DR-2016-265 |
| General Aspects | |
| Medical area |
Cardiology Disability/handicap Gastroenterology et hepatology Neurology Pneumology Radiology and medical imaging Rare diseases |
| Pathology (details) | Thin translucent skin; Arterial/intestinal/uterine fragility or rupture; Extensive bruising |
| Health determinants |
Genetic Healthcare system and access to health care services Lifestyle and behavior Medicine Occupation Social and psychosocial factors |
| Scientific investigator(s) (Contact) | |
| Name of the director | JEUNEMAITRE |
| Surname | Xavier |
| Address |
Service de génétique / Centre National de référence des Maladies vasculaires Rares Hôpital Européen Georges Pompidou (HEGP) 20-40, rue Leblanc 75908 Paris Cedex FRANCE |
| Phone | +33 (0)1 56 09 38 81 / +33 (0)1 56 09 50 41 |
| xavier.jeunemaitre@aphp.fr | |
| Unit | Inserm UMR S 970 |
| Organization | Institut National de la Santé et de la Recherche Médicale / French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Details | European Reference Network |
| Funding | |
| Funding status |
Public |
| Details | Funded by the French « Investissements d’Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | Inserm |
| Organisation status |
Public |
| Presence of scientific or steering committees |
Yes |
| Labelling and database evaluation | Security audit certification of the database |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Morbidity registers |
| Database objective | |
| Main objective |
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. |
| Inclusion criteria |
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. |
| Population type | |
| 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 covered |
Sick population |
| Pathology | I73 - Other peripheral vascular diseases |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | European extension envisaged |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 2016 |
| Date of last collection (YYYY or MM/YYYY) | 2021 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 340 subjects targeted |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data Cost data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Details of collected clinical data | • 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. |
| Declarative data (detail) |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Details of collected declarative data | SF-36 (adults) / SF-10 (children), Hamilton |
| Biological data (detail) | 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). |
| Cost data (detail) | 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. |
| Presence of a biobank |
Yes |
| Contents of biobank |
DNA |
| Health parameters studied |
Health event/morbidity Health event/mortality Health care consumption and services Quality of life/health perception |
| Care consumption (detail) |
Hospitalization Medical/paramedical consultation Medicines consumption |
| Quality of life/perceived health (detail) | quality of life (SF-36 (adults) / SF-10 (children), Hamilton). |
| Procedures | |
| Data collection method | eCRF using REDCap; Cloud based, secure by design web accessible platform. Certified Health Data Hosting resource |
| Classifications used | HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs) |
| Quality procedure(s) used | Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system |
| Participant monitoring |
Yes |
| Monitoring procedures |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor |
| Followed pathology | I73 - Other peripheral vascular diseases |
| Links to administrative sources |
Yes |
| Linked administrative sources (detail) | PMSI, AMELI, NABM, CCAM, NGAP, AMI, AMK |
| Promotion and access | |
| Promotion | |
| Access | |
| Presence of document that lists variables and coding procedures |
Yes |
| Terms of data access (charter for data provision, format of data, availability delay) | 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 |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
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