MARFAN - Patients with Marfan Syndrome or Related Conditions
Head :
Jondeau Guillaume, CENTRE DE REFERENCE SYNDROME DE MARFAN ET APPARENTES
INSERM U 698
INSERM U 793 AP-HP
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 |
