CEPACS - Cohort of children with chromosomal structure abnormality
Head :
Verloes Alain, INSERM U676 (PHYSIOPATHOLOGIE, CONSEQUENCES FONCTIONNELLES ET NEUROPROTECTION DES ATTEINTES DU CERVEAU EN DEVELOPPEMENT) DEPARTEMENT DE GENETIQUE
Last update : 10/11/2013 | Version : 1 | ID : 60091
| General | |
| Identification | |
| Detailed name | Cohort of children with chromosomal structure abnormality |
| Sign or acronym | CEPACS |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | Date de réception de l'avis favorable de la CNIL : 23/05/2007 |
| General Aspects | |
| Medical area |
Immunology |
| Health determinants |
Genetic |
| Keywords | Health events, cytogenetic reorganization, motor cognitive and physical development, psychometric assessments, education, institutional caring |
| Scientific investigator(s) (Contact) | |
| Name of the director | Verloes |
| Surname | Alain |
| Address | 75019 PARIS |
| Phone | + 33 (0)1 40 03 53 41 |
| alain.verloes@rdb.aphp.fr | |
| Unit | INSERM U676 (PHYSIOPATHOLOGIE, CONSEQUENCES FONCTIONNELLES ET NEUROPROTECTION DES ATTEINTES DU CERVEAU EN DEVELOPPEMENT) DEPARTEMENT DE GENETIQUE |
| Organization | INSERM |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Others | Participation in a cohort network: CEMARA - platform shared by 32 reference centers for rare diseases |
| Funding | |
| Funding status |
Public |
| Details | ---- |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | ASSISTANCE PUBLIQUE HOPITAUX DE PARIS |
| 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. | Prospective |
| Database objective | |
| Main objective |
The main objective of this cohort is clinical 1) Acquire information about motor, cognitive and physical development of patients carriers of micro-reorganizations depending on the type of anomaly declared 2) Define, through a longitudinal follow-up, the morbid complications (neurological progress or degradation, epilepsy, incidence of common pathologies) and mortality rate of these patients 3) Specify psychological, medical and social caring parameters, education and socialization of these patients, medico-economic consequences. Secondary objective : Introduce, at the level of French population, the overall impact, the distribution by type of abnormality and by chromosomal region, the effects of environment variables such as parents age,... |
| Inclusion criteria | Chromosomal structure micro-reorganizations detected through molecular cytogenetic (Fish or CGH Array) |
| Population type | |
| Age |
Newborns (birth to 28 days) Childhood (6 to 13 years) Adolescence (13 to 18 years) |
| Population covered |
Sick population |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | French multi-center cohort (34 centers) |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 05/2007 |
| Size of the database | |
| Size of the database (number of individuals) |
[1000-10 000[ individuals |
| Details of the number of individuals | 1000 |
| 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 |
| Details of collected clinical data | Clinical examination at inclusion and during the follow-up. Information collected during the clinical examination : indirect collection through parents, most of the time (mentally disabled patients) |
| Declarative data (detail) |
Face to face interview |
| Details of collected declarative data | Clinical examination at inclusion and during the follow-up. Information collected during the clinical examination : indirect collection through parents, most of the time (mentally disabled patients) |
| Paraclinical data (detail) | Imaging: different examinations can be collected depending on clinical constraints. No examination is collected without being justified by medical follow-up good practice. |
| Biological data (detail) | Samples: karyotype and DNA collected with diagnostic purposes, in the context of an etiologic checkup. The results of this examination are a prerequisite for the inclusion in the cohort |
| Presence of a biobank |
Yes |
| Contents of biobank |
DNA |
| Details of biobank content | DNA bank |
| Health parameters studied |
Health event/morbidity Health event/mortality |
| Procedures | |
| Data collection method | Interviews: manually entered paper questionnaire Clinical examinations: hand-written step Biological examinations: hand-written step |
| Participant monitoring |
Yes |
| Details on monitoring of participants | Undetermined period |
| Links to administrative sources |
Yes |
| Linked administrative sources (detail) | CépiDC |
| Promotion and access | |
| Promotion | |
| Access | |
| Dedicated website | https://cemara.org |
| Terms of data access (charter for data provision, format of data, availability delay) |
Possible data utilization by academic teams? Yes. Contractual access conditions. Data utilization available for industry sectors? Non |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
