RaDiCo-SEDVasc - National cohort on the vascular Ehlers-Danlos syndrome (SEDv)
Head :
JEUNEMAITRE Xavier, Inserm UMR S970
Last update : 01/19/2024 | Version : 2 | 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 Pediatrics Radiology and medical imaging Rare diseases |
| Study in connection with Covid-19 |
No |
| Pathology (details) | The inheritance of vEDS follows an autosomal dominant trait and is related to mutations in the COL3A1 gene, encoding the pro-α chain of type III procollagen. The mutation alters the assembly, stability and thus secretion and resistance to tensile stress of this fibrillar collagen, resulting in early spontaneous arterial, digestive and obstetrical accidents. |
| 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 |
| Unit | Inserm UMR S970 |
| Organization | 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 recruitment is carried out as part of an interventional study |
No |
| Database 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).
|
| 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); - Patients (or his/her legal guardian) who are signed informed consent or does not oppose to his/her personal data collection. |
| 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 | Medical personal and family history; medical characteristics at baseline and throughout the study; type of genetic mutation; patient phenotype |
| Declarative data (detail) |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Paraclinical data (detail) | Laboratory features and imaging or surgical reports |
| Biological data (detail) | Measurements like hemoglobin, hematocrit, leucocytes and platelets, 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) | Medico-economic cost of patient care |
| Presence of a biobank |
No |
| 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) | Short-Form Health Survey (SF-36 for adults, SF-10 for children), Hospital Anxiety and Depression Scale (HADS) |
| 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) | Requests for access to RaDiCo-SEDVasc data (aggregated or individual) will be considered by the Scientific Committee following the submission of a summary of a specific research project, as defined in the Charter of access to resources. Requests should be sent to: sedvasc@radico.fr |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
