RaDiCo-IDMet - National cohort on imprinting disorders and their metabolic consequences

Responsable(s) :
LINGLART Agnes, Inserm U 1169
NETCHINE Irène, INSERM U938, équipe 4

Date de modification : 12/01/2017 | Version : 1 | ID : 73382

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Métadonnées
Identification
Thématiques générales
Responsable(s) scientifique(s)
Collaborations
Financements
Gouvernance de la base de données
Contact(s) supplémentaire(s)
Type de base de données
Objectif de la base de données
Type de population
Dates
Taille de la base de données
Données
Modalités
Valorisation et accès
Accès
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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
Email 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

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