About this study
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 locations
France
State / region not reported
Angers (1)
- CHU d'Angers — Not Yet Recruiting
Besançon (1)
- Hôpital Jean Minjoz — Not Yet Recruiting
Clermont-Ferrand (1)
- Hôpital Gabriel Montpied — Not Yet Recruiting
Le Kremlin-Bicêtre (1)
- Hôpital Bicêtre — Recruiting
Lille (1)
- Hôpital Jeanne de Flandre — Not Yet Recruiting
Limoges (1)
- Hôpital de la mère et de l'enfant — Not Yet Recruiting
Lyon (1)
- Hôpital Femme Mère Enfant — Not Yet Recruiting
Marseille (1)
- Hôpital de la Timone — Recruiting
Nancy (1)
- Hôpital Brabois — Not Yet Recruiting
Nantes (1)
- Hôpital enfant-adolescent — Not Yet Recruiting
Paris (5)
- Hôpital Armand-Trousseau — Recruiting
- Hôpital de la Pitié-Salpêtrière — Recruiting
- Hôpital de la Pitié-Salpêtrière — Recruiting
- Hôpital Necker Enfants Malades — Recruiting
- Hôpital Robert Debré — Not Yet Recruiting
Rennes (1)
- Hôpital Sud — Recruiting
Strasbourg (1)
- Hôpital Civil — Not Yet Recruiting
Toulouse (2)
- Hôpital des Enfants — Recruiting
- Hôpital des Enfants — Not Yet Recruiting
Tours (1)
- Hôpital Bretonneau — Not Yet Recruiting
Contact information
- Agnès LINGLART
+33 1 45 21 78 53
agnes.linglart@aphp.fr - Irène NETCHINE
irene.netchine@aphp.fr
Full registry eligibility criteria
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.
Important information
Registry information may change. FAST context and classifications are editorial additions. Inclusion does not confirm eligibility or availability at a specific site. Review the official record and contact the study team for participation requirements.