RaDiCo-IDMet - National cohort on imprinting disorders and their metabolic consequences
Responsable(s) :
LINGLART Agnes, Inserm U 1169
NETCHINE Irène, INSERM U938, équipe 4
NETCHINE Irène, INSERM U938, équipe 4
Date de modification : 12/01/2017 | Version : 1 | 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.) | CCTIRS N°16-086 /CNIL Decision N° DR-2016-458 |
| Thématiques générales | |
| Domaine médical |
Biology Disability/handicap Endocrinology and metabolism Internal medicine Neurology Psychology and psychiatry Rare diseases |
| Pathologie, précisions | Imprinting disorders (IDs) are a group of rare human congenital diseases affecting approximately 7,500 - 10,000 patients in the Europe. Until now there are less than ten clinically recognized disorder: Silver Russell Syndrome (SRS), Beckwith Wiedemann Syndrome (BWS), transient neonatal diabetes mellitus (TNDM), Angelman Syndrome (AS), Prader-Willi Syndrome (PWS), Temple Syndrome or maternal UPD 14 (TS), Kagami-Ogata syndrome (WS), pseudohypoparathyroidism (PHP) and Familial Precocious Puberty (FPP). These IDs are characterized by common underlying molecular mechanisms and overlapping phenotypes, including abnormal growth and pubertal development, neurodevelopmental delay and disturbed metabolism. The symptoms of these human IDs suggest that many imprinted genes play important roles in growth regulation during embryonic and postnatal development. In addition, imprinted genes also influence glucose metabolism, nutritional behavior, obesity, pubertal development, bone health and skeletal growth, brain function and behavior. |
| Déterminants de santé |
Genetic Healthcare system and access to health care services Lifestyle and behavior Medicine Nutrition Social and psychosocial factors |
| Responsable(s) scientifique(s) | |
| Nom du responsable | LINGLART |
| Prénom | Agnes |
| Adresse |
Bâtiment Alagille, 4ème étage GHU Paris-Sud - Hôpital de Bicêtre 78 rue du Général Leclerc 94270 LE KREMLIN-BICÊTRE FRANCE |
| Téléphone | +33 (0)1 45 21 78 53 |
| agnes.linglart@aphp.fr | |
| Laboratoire | Inserm U 1169 |
| Organisme | Institut National de la Santé et de la Recherche Médicale / French National Institute for Health and Medical Research (Inserm) |
| Nom du responsable | NETCHINE |
| Prénom | Irène |
| Adresse |
Hôpital Armand Trousseau Bâtiment Lemariey – 3eme étage 26 Avenue du Dr Arnold Netter 75012 Paris FRANCE |
| Téléphone | +33 (0)1 44 73 66 31 |
| Laboratoire | INSERM U938, équipe 4 |
| Organisme | Institut National de la Santé et de la Recherche Médicale / French National Institute for Health and Medical Research (Inserm) |
| Collaborations | |
| Participation à des projets, des réseaux, des consortiums |
Yes |
| Précisions | Filières de Santé Maladies Rares FIRENDO and OSCAR /European Reference Network ENDO-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 | Institut National de la Santé et de la Recherche Médicale / French National Institute for Health and Medical Research (Inserm) |
| Statut de l’organisation | |
| Contact(s) supplémentaire(s) | |
| Caractéristiques | |
| Type de base de données | |
| Type de base de données |
Morbidity registers |
| Informations complémentaires concernant la constitution de l'échantillon |
All patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner’s center.
To date, the total number of patients follow in all participating sites is 1515. However only part of them will be included in the cohort (those still in contact with the sites or willing to participate…) Considering the incidence of imprinting disorders, the number of incident and prevalent patients newly included in the cohort every year is estimate at 200. In total we expect to include about 2000 patients affected with one of the 8 IDs. - Study duration The duration of the follow-up for each participant in this study is 10 years. The final visit corresponds to the eleventh annual visit. It will include the usual medical examination of IDs patients as for the previous visits. No specific procedure is predicted at the end of the study. At the end of these 10 years of follow-ups, additional follow-up yearly visits might be performed. Collected data will be considered as exploratory data. Participation in the cohort study will be proposed by the specialist in charge of the follow-up of patients satisfying the inclusion and not the non-inclusion criteria, during their follow-up visit for prevalent patients and their first visit for incident patients. Pediatric patients will be recruited during medical consultation (i) through specialized centers belonging to the relevant French Rare Disease Healthcare Reference Networks (Filières de Santé Maladies Rares: Firendo, OSCAR, Defiscience) (ii) through pediatric departments of hospitals upon confirmation of diagnosis (iii) during a follow-up visit. In the same way, - Incident adult patients will be recruited by inclusion centers (belonging to the relevant Rare Disease Healthcare Reference Networks) during a medical consultation upon confirmation of their disorder by a first clinical or biological result - Prevalent adult patients will be recruited during a current follow-up visit. All patients meeting criteria for inclusion, not satisfying the non-inclusion, and willing to participate will be informed of the terms of the study during their consultation. Informed consent form and patient information sheet will be provided and explained by the investigator. Patients will be given as much time as necessary to evaluate their participation to the study. Participation in another study is not an exclusion criterion for this study as this is a follow-up of cohort type study. Dissemination and promotion of the RaDiCo-IDMet cohort will also be made through scientific societies (SFEDP, société de neuroendocrinology, société de neurologie pédiatrique), patient organizations (SRS-SGA; AFOHA, K20) and peer reviewed publications. |
| Objectif de la base de données | |
| Objectif principal |
Main objective
The main objective of this study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile. Secondary objectives Secondary objectives are: • Evaluate the correlation between phenotypes and metabolic profiles at the time of diagnosis. • Evaluate the risk factor of the various metabolic profiles • Identify common therapeutic approaches for all IDs (this might lead to the identification of extended applications to all IDs or a larger group of IDs for drugs with so far restricted Marketing Authorization (MA). • Assess the impact of IDs on quality of life • Analyse inheritance data of the diseases (search for transmission of (epi)genetic mutations in parents of probands). Exploratory objectives • To evaluate the feasibility to use metabolic profiles for clinical classification of IDs • To develop comprehensive, evidence based guidelines for diagnostic, treatments as well as for follow-up of patients • To establish a homogenous group of French IDs patients in order to improve knowledge and medical management of IDs. • To explore the correlation between microbiotia and metabolic profiles in IDs. • To explore the possibility of using a therapeutic approach already in use for one ID also for other IDs Information Technology Objectives • Develop and diffuse an electronic tool of data collection from various sources linked to a database integrating a system of management and follow-up of data-management allowing collection of data for IDs patients. • Include data generated by patients and, where relevant, their parents and/or carers. |
| Critères d'inclusion |
Inclusion period will last 5 years.
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. European extension envisaged. |
| Collecte | |
| Dates | |
| Année du premier recueil | 2017 |
| Année du dernier recueil | 2032 and more |
| 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 | 1250 |
| Données | |
| Activité de la base |
Current data collection |
| Type de données recueillies |
Clinical data Declarative data Paraclinical data Biological data |
| Données cliniques, précisions |
Direct physical measures Medical registration |
| Détail des données cliniques recueillies | clinical, genetic, biological and morphometric characteristics of IDs over time in pediatric and adults patients.: implementation of the family history; description of patient’s phenotype : clinical, biological and morphological manifestations of the disease; |
| Données déclaratives, précisions |
Paper self-questionnaire Internet self-questionnaire Face to face interview |
| Détail des données déclaratives recueillies | Adults: SF-36, HAQ, WPAI, BES, Childhood Health assessment questionnaire for parents; Children: SF-10, Childhood Health assessment questionnaire and hyperphagia questionnaire of Dykens |
| Données paracliniques, précisions | evaluation of feeding behaviour, sociological state and quality of life |
| Données biologiques, précisions | description of patient’s genetic or epigenetic defects(description of altered epigenetic processes of imprinted genes in multiple tissues |
| 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 Health care consumption and services Quality of life/health perception Others |
| Consommation de soins, précisions |
Hospitalization Medical/paramedical consultation Medicines consumption |
| Qualité de vie/santé perçue, précisions | Adults: SF-36, HAQ, WPAI, BES, Childhood Health assessment questionnaire for parents; Children: SF-10, Childhood Health assessment questionnaire and hyperphagia questionnaire of Dykens |
| Modalités | |
| Mode de recueil des données | eCRF using REDCap; Cloud based, secure by design web accessible platform. Certified Health Data Hosting resource |
| Nomenclatures employées | HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs) |
| Procédures qualité utilisées | Continuous data management; Data Management Plan and Data Validation Plan. Native controls 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) | Access requests to RaDiCo-IDMet data (rough / structured), biocollections or to analytic reports will be examined by the scientific committee following submission of a Specific Research Project (SRP) synopsis, as defined in the Resource Access Charter. Must be sent to idmet@radico.fr |
| Accès aux données agrégées |
Access on specific project only |
| Accès aux données individuelles |
Access on specific project only |
