Angelman Syndrome, Beckwith-Wiedemann Syndrome, Familial Precocious Puberty, Kagami-Ogata Syndrome, Prader-Willi Syndrome, Pseudohypoparathyroidism, Silver Russell Syndrome, Temple Syndrome, Transient Neonatal Diabetes Mellitus
Conditions
Brief summary
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?
Interventions
None listed
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Patients (adults and children) affected with an ID regardless of the severity of the disease * A confirmed diagnosis of ID (based on molecular diagnosis) * A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult. Non-Inclusion Criteria: There are no non-inclusion criteria.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The clinical characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years |
| The genetic characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years |
| The biological characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years |
| The morphometric characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years |
Secondary
| Measure | Time frame |
|---|---|
| Variations of quality-of-life scores. | Through study completion, an average of 10 years |
| Search for an association between the metabolic phenotype of IDs patients' and their biological profil. | At the time of diagnosis (or at first measurement) |
| Analyse of (epi)genetic mutations transmission in proband and relatives. | Through study completion, an average of 10 years |
| Determination of the prevalence of metabolic abnormalities (MA). | At inclusion |
| Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome. | 10 years after |
| Description of different therapeutic approaches and identification of a common base for all IDs. | Through study completion, an average of 10 years |
Countries
France
Contacts
CONTACTAgnès LINGLART
CONTACTIrène NETCHINE
PRINCIPAL_INVESTIGATORAgnès LINGLART
Inserm U1169
Outcome results
None listed