RaDiCo-IDMet - National cohort on imprinting disorders and their metabolic consequences
Responsable(s) :
LINGLART Agnès, UMR-S 1185
NETCHINE Irène, UMR-S 938
NETCHINE Irène, UMR-S 938
Date de modification : 23/02/2024 | Version : 2 | ID : 73382
| Général | |
| Identification | |
| Nom détaillé | National cohort on imprinting disorders and their metabolic consequences |
| Sigle ou acronyme | RaDiCo-IDMet |
| Numéro d'enregistrement (ID-RCB ou EUDRACT, CNIL, CPP, etc.) | N° CCTIRS 16-086 / N° CPP 14129 / N° CNIL 916194 / N° MESR DC-2015-2481 |
| Thématiques générales | |
| Domaine médical |
Biology Disability/handicap Endocrinology and metabolism Neurology Pediatrics Psychology and psychiatry Rare diseases |
| Etude en lien avec la Covid-19 |
No |
| Pathologie, précisions | 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. |
| Responsable(s) scientifique(s) | |
| Nom du responsable | LINGLART |
| Prénom | Agnès |
| Adresse |
GHU Paris-Sud - Hôpital de Bicêtre 78 rue du Général Leclerc 94270 LE KREMLIN-BICÊTRE FRANCE |
| Téléphone | +33 (0)1 45 21 78 53 |
| Laboratoire | UMR-S 1185 |
| Organisme | French National Institute for Health and Medical Research (Inserm) |
| Nom du responsable | NETCHINE |
| Prénom | Irène |
| Adresse |
Hôpital Armand Trousseau 26 Avenue du Dr Arnold Netter 75012 PARIS FRANCE |
| Téléphone | +33 (0)1 44 73 66 31 |
| Laboratoire | UMR-S 938 |
| Organisme | French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation à des projets, des réseaux, des consortiums |
Yes |
| Précisions | Rare diseases health networks FIRENDO and OSCAR / ENDO - European Reference Network (ERN) |
| Financements | |
| Financements |
Public |
| Précisions | Funded by the French « Investissements d’Avenir » cohorts programme, Grant « ANR » 10-COHO-0003. |
| Gouvernance de la base de données | |
| Organisation(s) responsable(s) ou promoteur | French National Institute for Health and Medical Research (Inserm) |
| Statut de l’organisation |
Secteur Public |
| Existence de comités scientifique ou de pilotage |
Yes |
| Labellisations et évaluations de la base de données | Security audit certification of the database. Data management and continuous quality control of data. |
| Contact(s) supplémentaire(s) | |
| Caractéristiques | |
| Type de base de données | |
| Type de base de données |
Morbidity registers |
| Origine du recrutement des participants |
A selection of health institutions and services |
| Le recrutement dans la base de données s'effectue dans le cadre d'une étude interventionnelle |
No |
| Objectif de la base de données | |
| Objectif principal |
The main objective of this study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile.
|
| Critères d'inclusion |
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. |
| Type de population | |
| 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 concernée |
Sick population |
| Pathologie | Q87 - Other specified congenital malformation syndromes affecting multiple systems |
| Sexe |
Male Woman |
| Champ géographique |
National |
| Détail du champ géographique | National coverage through reference and competence centers focusing on these diseases. |
| Collecte | |
| Dates | |
| Année du premier recueil | 2017 |
| Année du dernier recueil | 2032 |
| Taille de la base de données | |
| Taille de la base de données (en nombre d'individus) |
[1000-10 000[ individuals |
| Détail du nombre d'individus | 2000 estimated |
| Données | |
| Activité de la base |
Current data collection |
| Type de données recueillies |
Clinical data Declarative data Paraclinical data Biological data |
| Détail des données cliniques recueillies | Medico-personal and family history, phenotype of the patient (clinical and morphological manifestation of the disease), .... |
| Données déclaratives, précisions |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Détail des données déclaratives recueillies | 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. |
| Données paracliniques, précisions | Eating behaviours |
| Données biologiques, précisions | Identified genetic/epigenetic abnormalities and their location |
| Existence d’une biothèque |
Yes |
| Contenu de la biothèque |
Others |
| Détail des éléments conservés | Stools |
| Paramètres de santé étudiés |
Health event/morbidity Health event/mortality Quality of life/health perception |
| Modalités | |
| Mode de recueil des données | eCRF in secure web access, secure cloud and HADS hosting |
| Nomenclatures employées | Drug dictionary (DCIs) |
| Procédures qualité utilisées | Data Management Plan and Data Validation Plan. Continuous data management (automatic control rules and query system) |
| Suivi des participants |
Yes |
| Modalités de suivi des participants |
Monitoring by convocation of the participant Monitoring by contact with the referring doctor |
| Appariement avec des sources administratives |
No |
| Valorisation et accès | |
| Valorisation et accès | |
| Accès | |
| Existence d’un document qui répertorie les variables et les modalités de codage |
Yes |
| Charte d'accès aux données (convention de mise à disposition, format de données et délais de mise à disposition) | 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 |
| Accès aux données agrégées |
Access on specific project only |
| Accès aux données individuelles |
Access on specific project only |
