Last update : 07/01/2014 | Version : 1 | ID : 60099
General | |
Identification | |
Detailed name | Patients with Marfan Syndrome or Related Conditions |
Sign or acronym | MARFAN |
CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | Accord CNIL : 26/10/2007 |
General Aspects | |
Medical area |
Cardiology |
Health determinants |
Genetic Occupation |
Others (details) | Marfan syndrome or related conditions |
Keywords | aortic dissection, surgery, mitral valve, crystalline, orthopaedics, Health episodes |
Scientific investigator(s) (Contact) | |
Name of the director | Jondeau |
Surname | Guillaume |
Phone | + 33 (0)1 40 25 68 11 |
guillaume.jondeau@bch.aphp.fr | |
Unit |
CENTRE DE REFERENCE SYNDROME DE MARFAN ET APPARENTES INSERM U 698 INSERM U 793 AP-HP |
Organization | INSERM |
Collaborations | |
Participation in projects, networks and consortia |
Yes |
Funding | |
Funding status |
Public |
Details | GIS MALADIES RARES, SOCIETE FRANÇAISE DE CARDIOLOGIE/ FEDERATION FRANÇAISE DE CARDIOLOGIE DHOS DANS LE CADRE DU FINANCEMENT DU CENTRE DE REFERENCE |
Governance of the database | |
Sponsor(s) or organisation(s) responsible | INSERM - Institut National de la Santé et de la Recherche Médicale |
Organisation status |
Public |
Additional contact | |
Main features | |
Type of database | |
Type of database |
Study databases |
Study databases (details) |
Cohort study |
Database recruitment is carried out by an intermediary |
A selection of health institutions and services |
Database recruitment is carried out as part of an interventional study |
No |
Additional information regarding sample selection. | Inclusion method: Prospective Other bodies active in creating this cohort: CHU, SPECIALIST CENTRES FOR MARFAN SYNROME AND RELATED CONDITIONS Inclusion cut-off date: indefinite |
Database objective | |
Main objective | General objective: To assess predictive factors of aortic dissection in patients with Marfan syndrome in order to determine parameters for aortic surgical treatment that are poorly defined at present. Secondary objectives: - To describe modern representation of patients with Marfan syndrome - to investigate intrafamilial variability - To investigate the importance of gender, treatment benefits and changes in treatment over time - To study factors of aortic dilation. |
Inclusion criteria | Adults attending specialist consultation for Marfan syndrome and related conditions |
Population type | |
Age |
Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) |
Population covered |
Sick population |
Gender |
Male Woman |
Geography area |
National |
Detail of the geography area | Multicentric cohort (7 centres) throughout France and subsequently Germany and Belgium |
Data collection | |
Dates | |
Date of first collection (YYYY or MM/YYYY) | 10/1996 |
Size of the database | |
Size of the database (number of individuals) |
[500-1000[ individuals |
Details of the number of individuals | 827 |
Data | |
Database activity |
Data collection completed |
Type of data collected |
Paraclinical data Biological data |
Paraclinical data (detail) | Imaging |
Biological data (detail) | Type of samples taken: Additional tubes required for study for samples taken while in care |
Presence of a biobank |
Yes |
Contents of biobank |
Serum Plasma DNA |
Details of biobank content | Serum bank, Plasma bank, DNA bank |
Health parameters studied |
Health event/morbidity Health event/mortality |
Procedures | |
Data collection method | Interview: Direct input Clinical examination: Direct input Biological analysis: Handwritten (Manual input) |
Participant monitoring |
Yes |
Details on monitoring of participants | (Indefinite duration) |
Links to administrative sources |
No |
Promotion and access | |
Promotion | |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/24254191 |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/24254191 |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/24008997 |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/23810486 |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/23506379 |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/22440060 |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/22424326 |
Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/22772371 |
Access | |
Terms of data access (charter for data provision, format of data, availability delay) | Data may be used by academic teams Contractual access Data may be used by industrial teams: to be decided Access determined on a case by case basis |
Access to aggregated data |
Access on specific project only |
Access to individual data |
Access on specific project only |
Partners - FAQ - Contact - Site map - Legal notices - Administration - Updated on December 15 2020 - Version 4.10.05