ITMO public health
Last update : 07/01/2014 | Version : 1 | ID : 60094
| General | |
| Identification | |
| Detailed name | Hereditary Retinal Dystrophy 2004 |
| Sign or acronym | DMLA 2004 |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | CNIL |
| General Aspects | |
| Medical area |
Ophthalmology Radiology and medical imaging |
| Health determinants |
Genetic |
| Keywords | visual function, Health episodes, morphometric data, retina, impact, quality of life, assessment, disability |
| Scientific investigator(s) (Contact) | |
| Name of the director | Sahel |
| Surname | José-Alain |
| Address | 75012 PARIS |
| Phone | + 33 (0)1 40 02 14 04 |
| j-sahel@quinze-vingts.fr | |
| Unit | UMR592 UPMC/CHNO DES XV-XX/INSERM |
| Organization | CHNO DES |
| Name of the director | Mohand-Said |
| Address | 75012 PARIS |
| Phone | + 33 (0)1 40 02 14 38 |
| maohand@quinze-vingts.fr | |
| Unit | INSERM CIC 503/ UMR 592 UPMC PARIS 6 / CHNO DES XV-XX |
| Organization | INSERM |
| Collaborations | |
| Funding | |
| Funding status |
Mixed |
| Details | ANR, Inserm, CHNO 15-20, Communauté Européenne, Ministère de la Recherche et de l'Enseignement Supérieur, Ministère de la Santé, Fondation FIGHTING BLINDNESS (USA), FONDATION VOIRE ET ENTENDRE, FONDATION POUR LA RECHERCHE MEDICALE |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | CHNO DES QUINZE-VINGTS |
| Organisation status |
Public |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Study databases |
| Study databases (details) |
Case control 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. | Prospective Other bodies active in creating this cohort: CHU, CHG |
| Database objective | |
| Main objective | General objective: to study genotype-phenotype correlations Secondary objectives: - to study morphofunctional correlations - to identify new functional or morphological markers - to research predictive signs of progression. |
| Inclusion criteria | Individuals with hereditary retinal dystrophy Related individuals |
| Population type | |
| Age |
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 |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | Multicentric cohort throughout France (13 centres) |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 10/2004 |
| Size of the database | |
| Size of the database (number of individuals) |
[1000-10 000[ individuals |
| Details of the number of individuals | 1844 |
| Data | |
| Database activity |
Data collection completed |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Declarative data (detail) |
Paper self-questionnaire Face to face interview |
| Paraclinical data (detail) | Imaging, visual acuity, visual field assessment, colour vision examination, electroretinography |
| Biological data (detail) | Type of samples taken: Blood |
| Presence of a biobank |
Yes |
| Contents of biobank |
DNA |
| Details of biobank content | DNA bank |
| Health parameters studied |
Quality of life/health perception |
| Procedures | |
| Data collection method | Self-administered questionnaire: manual input Interview: manual input Biological analysis: 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://bjo.bmj.com/content/82/9/996.long |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | Data may be used by academic teams |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
| ABOUT | CATALOG | RESOURCES | USEFUL LINKS |
This site complies with the HONcode standard for trustworthy health information: |
8 rue de la Croix Jarry 75013 Paris Phone : +33 1 44 23 67 47 |
Partners - FAQ - Contact - Site map - Legal notices - Administration - Updated on December 15 2020 - Version 4.10.05
