CADASIL - CADASIL patient cohort 
Head :
Chabriat Hugues, CERVCO CENTRE DE RÉFÉRENCES POUR LES MALADIES RARES DES VAISSEAUX DU CERVEAU ET DE L'OEIL, HOPITAL LARIBOISIERE
Last update : 12/01/2017 | Version : 2 | ID : 60170
| General | |
| Identification | |
| Detailed name | CADASIL patient cohort |
| Sign or acronym | CADASIL |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | Accord CNIL |
| General Aspects | |
| Medical area |
Neurology |
| Health determinants |
Occupation |
| Keywords | cognitive decline, mobility impairment, migraine, ischaemic stroke, epileptic seizure, Health episodes, apathy, hospitalisation, health system |
| Scientific investigator(s) (Contact) | |
| Name of the director | Chabriat |
| Surname | Hugues |
| Address | 75010 PARIS |
| Phone | + 33 (0)1 49 95 25 95 |
| hugues.chabriat@lrb.aphp.fr | |
| Unit | CERVCO CENTRE DE RÉFÉRENCES POUR LES MALADIES RARES DES VAISSEAUX DU CERVEAU ET DE L'OEIL, HOPITAL LARIBOISIERE |
| Organization | APHP |
| Collaborations | |
| Funding | |
| Funding status |
Mixed |
| Details | PHRC, Centre de maladies rares, dons association ARNEVA, Association CADASIL France (familles) |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | APHP |
| 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 |
| Database objective | |
| Main objective | General objective: prospective study of patients with Notch 3 gene mutation thought to cause CADASIL: research into prognostic factors and useful markers for preventative treatment trial. Secondary objectives: - To determine clinical-radiological correlations - Modifying factors of clinical phenotype and MRI studies - Prognostic and progressive factors - Clinical phenotype variability - Natural history of disease |
| Inclusion criteria | Adult patients with Notch 3 genetic mutation thought to cause CADASIL |
| Population type | |
| Age |
Great age (80 years and more) |
| Population covered |
Sick population |
| Gender |
Male Woman |
| Geography area |
Local |
| French regions covered by the database |
Île-de-France |
| Detail of the geography area | Lariboisière Hospital, Paris |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 04/2006 |
| Date of last collection (YYYY or MM/YYYY) | 12/2007 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 250 |
| Data | |
| Database activity |
Data collection completed |
| Type of data collected |
Clinical data Paraclinical data Biological data |
| Clinical data (detail) |
Medical registration |
| Paraclinical data (detail) | Carotid Doppler ultrasound and MRI with measurement or calculation of total lacunar infarcts and white matter hyperintensities, brain volume, average circulation and number of microbleeds |
| Biological data (detail) | Biological assessment |
| Presence of a biobank |
No |
| Health parameters studied |
Health event/morbidity Health event/mortality |
| Procedures | |
| Participant monitoring |
Yes |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/?term=CADASIL+AND+cohort+AND+apathy+AND+Chabriat+H[Author] |
| Description | List of publications in Pubmed |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | To be decided by scientist in charge |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
