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Résultat de votre recherche pour : radico : 7 fiches

Tri des résultats :

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

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

7

Mise à jour : 12/01/2017

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

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

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

Merci de patienter...

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