ITMO public health
Last update : 02/23/2024 | Version : 2 | ID : 73382
| General | |
| Identification | |
| Detailed name | National cohort on imprinting disorders and their metabolic consequences |
| Sign or acronym | RaDiCo-IDMet |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | N° CCTIRS 16-086 / N° CPP 14129 / N° CNIL 916194 / N° MESR DC-2015-2481 |
| General Aspects | |
| Medical area |
Biology Disability/handicap Endocrinology and metabolism Neurology Pediatrics Psychology and psychiatry Rare diseases |
| Study in connection with Covid-19 |
No |
| Pathology (details) | Imprinting disorders (IDs) are a group of rare genetic diseases affecting between 7,500 and 10,000 patients in the Europe. They are caused by genetic abnormalities affecting a certain type of gene, known as parental imprinting genes. Most genes in the human body are present in pairs in non-sex cells, each pair being called an allele. The genes that are subject to parental imprinting are different. They have only one allele and are subject to special regulatory mechanisms, called epigenetic modifications. Abnormalities in these mechanisms lead to abnormalities in gene expression leading to a variety of diseases whose clinical expression varies depending on whether the gene is passed on from the father or the mother. They constitute a group of 9 rare diseases (Beckwith-Wiedemann Syndrome, Prader Willi, Angelman, Silver Russel, Familial Precocious Puberty Limited to Boys, Pseudohypoparathyroidism, Kagami-Ogata, Temple, Transient Neonatal Type 1 Diabetes) that are probably underdiagnosed and affect growth, metabolism (lipid, carbohydrate, bone), feeding and social behavior, and reproduction. |
| Scientific investigator(s) (Contact) | |
| Name of the director | LINGLART |
| Surname | Agnès |
| Address |
GHU Paris-Sud - Hôpital de Bicêtre 78 rue du Général Leclerc 94270 LE KREMLIN-BICÊTRE FRANCE |
| Phone | +33 (0)1 45 21 78 53 |
| Unit | UMR-S 1185 |
| Organization | French National Institute for Health and Medical Research (Inserm) |
| Name of the director | NETCHINE |
| Surname | Irène |
| Address |
Hôpital Armand Trousseau 26 Avenue du Dr Arnold Netter 75012 PARIS FRANCE |
| Phone | +33 (0)1 44 73 66 31 |
| Unit | UMR-S 938 |
| Organization | French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation in projects, networks and consortia |
Yes |
| Details | Rare diseases health networks FIRENDO and OSCAR / ENDO - European Reference Network (ERN) |
| Funding | |
| Funding status |
Public |
| Details | Funded by the French « Investissements d’Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | French National Institute for Health and Medical Research (Inserm) |
| Organisation status |
Public |
| Presence of scientific or steering committees |
Yes |
| Labelling and database evaluation | Security audit certification of the database. Data management and continuous quality control of data. |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Morbidity registers |
| 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 |
The main objective of this study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile.
|
| Inclusion criteria |
Patients (adults and children) affected with an ID regardless of the severity of the disease,
- with a confirmed diagnosis of ID (based on molecular diagnosis) - with a signed informed consent for adults or signed informed consent of parents/guardians of minors/protected adult. There are no non-inclusion criteria. |
| 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 |
| Pathology | Q87 - Other specified congenital malformation syndromes affecting multiple systems |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | National coverage through reference and competence centers focusing on these diseases. |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 2017 |
| Date of last collection (YYYY or MM/YYYY) | 2032 |
| Size of the database | |
| Size of the database (number of individuals) |
[1000-10 000[ individuals |
| Details of the number of individuals | 2000 estimated |
| Data | |
| Database activity |
Current data collection |
| Type of data collected |
Clinical data Declarative data Paraclinical data Biological data |
| Details of collected clinical data | Medico-personal and family history, phenotype of the patient (clinical and morphological manifestation of the disease), .... |
| Declarative data (detail) |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Details of collected declarative data | Quality of life of patients and repercussions of the disease on socio-professional integration: quality of life questionnaires (SF-36, SF-10, HAQ, C-HAQ); Work Productivity and Activity Impairment questionnaire (WPAI); hyperphagia questionnaire of Dykens, and Binge-Eating Scale. |
| Paraclinical data (detail) | Eating behaviours |
| Biological data (detail) | Identified genetic/epigenetic abnormalities and their location |
| Presence of a biobank |
Yes |
| Contents of biobank |
Others |
| Details of biobank content | Stools |
| Health parameters studied |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Procedures | |
| Data collection method | eCRF in secure web access, secure cloud and HADS hosting |
| Classifications used | Drug dictionary (DCIs) |
| Quality procedure(s) used | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and query system) |
| Participant monitoring |
Yes |
| Monitoring procedures |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Access | |
| Presence of document that lists variables and coding procedures |
Yes |
| Terms of data access (charter for data provision, format of data, availability delay) | Requests for access to RaDiCo-IDMet data (aggregated or individual) will be considered by the Scientific Committee following the submission of a summary of a specific research project, as defined in the Charter of access to resources. Requests should be sent to: idmet@radico.fr |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
Access on specific project only |
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