- Hereditary Ichthyosis Cohort
Head :
Mazereeuw-Hautier Juliette, Unité « Différenciation Epidermique et Autoimmunité Rhumatoïde »
(UDEAR)
UMR 5165 CNRS – 1056 INSERM - Université Toulouse III,
Equipe « Kératinocyte granuleux et barrière épidermique » (N Jonca)
Jonca Nathalie
Jonca Nathalie
Last update : 07/06/2014 | Version : 1 | ID : 5215
| General | |
| Identification | |
| Detailed name | Hereditary Ichthyosis Cohort |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | en cours |
| General Aspects | |
| Health determinants |
Genetic |
| Others (details) | Ichthyosis |
| Keywords | Hereditary, progression, complications |
| Scientific investigator(s) (Contact) | |
| Name of the director | Mazereeuw-Hautier |
| Surname | Juliette |
| Address | Service de Dermatologie, Centre de Référence des Maladies Rares de la Peau 24, chemin de Pouvourville TSA 30300, Toulouse Cedex 09 |
| Phone | + 33 (0)5 67 77 81 41/21 |
| Mazereeuw-hautier.j@chu-toulouse.fr | |
| Unit |
Unité « Différenciation Epidermique et Autoimmunité Rhumatoïde » (UDEAR) UMR 5165 CNRS – 1056 INSERM - Université Toulouse III, Equipe « Kératinocyte granuleux et barrière épidermique » (N Jonca) |
| Organization | CHU |
| Name of the director | Jonca |
| Surname | Nathalie |
| Collaborations | |
| Funding | |
| Funding status |
Mixed |
| Details | Financement ministériel du centre de référence maladies rares pour du personnel. |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | CHU Toulouse |
| Organisation status |
Public |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Study databases |
| Study databases (details) |
Longitudinal study (except cohorts) |
| 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. | All patients with this disease are included |
| Database objective | |
| Main objective | To form a usable database for hereditary ichthyosis on which to base future research projects, such as epidemiological, clinical (disease progression follow-up and onset of complications) physiopathological or therapeutic projects. |
| Inclusion criteria | All hereditary ichthyosis patients, regardless of clinical type, severity, age, gender, disease progression or treatment (to ensure a broad representative cohort). Patients attending consultation or hospitalised during their first visit or medical follow-up in the Referral Centre or other centres throughout France. Signed consent to participate in the study. |
| Population type | |
| Age |
Newborns (birth to 28 days) Infant (28 days to 2 years) Early childhood (2 to 5 years) 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 |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | France |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 09/2009 |
| Size of the database | |
| Size of the database (number of individuals) |
< 500 individuals |
| Details of the number of individuals | 100 |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data Administrative data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Declarative data (detail) |
Face to face interview |
| Paraclinical data (detail) | Data collected from regular patient follow-up |
| Biological data (detail) | Regular biological monitoring |
| Administrative data (detail) | Socio-demographic data |
| Presence of a biobank |
Yes |
| Contents of biobank |
Whole blood Tissues DNA |
| Details of biobank content | Blood and skin samples |
| 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 |
| Procedures | |
| Data collection method | By physician during annual visit. Data are recorded in real-time in an Excel database for clinical and biological characteristics. |
| Participant monitoring |
Yes |
| Details on monitoring of participants | Re-assessment of patient's clinical and biological characteristics and quality of life during regular follow-up visit (normally an annual visit). Follow-up over 10 years. |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | Publications: Data available between CRMRP and INSERM teams. The creation of a database allows ichthyosis studies to be carried out jointly by these units. The transfer of data to other parties for research purposes is not planned unless part of a collaborative project. |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
