The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in 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. The main questions it aims to answer are: * Can we identify common metabolic profiles for all imprinted diseases? * Which imprinting disorders have an impact on the metabolic profiles of IDs? * Which are the metabolic risks associated to IDs? * Can we use the metabolic profiles for the clinical classification and prognosis of IDs? * Are there common therapeutic approaches for all IDs?
Study Type
OBSERVATIONAL
Enrollment
2,000
CHU d'Angers
Angers, France
NOT_YET_RECRUITINGHôpital Jean Minjoz
Besançon, France
NOT_YET_RECRUITINGHôpital Gabriel Montpied
Clermont-Ferrand, France
NOT_YET_RECRUITINGHôpital Bicêtre
Le Kremlin-Bicêtre, France
RECRUITINGHôpital Jeanne de Flandre
Lille, France
NOT_YET_RECRUITINGHôpital de la mère et de l'enfant
Limoges, France
NOT_YET_RECRUITINGHôpital Femme Mère Enfant
Lyon, France
NOT_YET_RECRUITINGHôpital de la Timone
Marseille, France
RECRUITINGHôpital Brabois
Nancy, France
NOT_YET_RECRUITINGHôpital enfant-adolescent
Nantes, France
NOT_YET_RECRUITING...and 10 more locations
The clinical characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
The genetic characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
The biological characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
The morphometric characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
Search for an association between the metabolic phenotype of IDs patients' and their biological profil.
Time frame: At the time of diagnosis (or at first measurement)
Determination of the prevalence of metabolic abnormalities (MA).
Time frame: At inclusion
Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome.
Time frame: 10 years after
Description of different therapeutic approaches and identification of a common base for all IDs.
Time frame: Through study completion, an average of 10 years
Variations of quality-of-life scores.
Time frame: Through study completion, an average of 10 years
Analyse of (epi)genetic mutations transmission in proband and relatives.
Time frame: Through study completion, an average of 10 years
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