Informations générales (source: ClinicalTrials.gov)

NCT05945576 En recrutement IDF
National Cohort on Imprinting Disorders and Their Metabolic Consequences (IDMet)
Observational
  • Syndrome de Beckwith-Wiedemann
  • Syndrome de Prader-Willi
  • Pseudohypoparathyroïdie
  • Pseudopseudo-hypoparathyroïdie
  • Puberté précoce
  • Syndrome
  • Syndrome d'Angelman
  • Syndrome de Silver-Russell
Institut National de la Santé Et de la Recherche Médicale, France (Voir sur ClinicalTrials)
mars 2017
mars 2028
05 avril 2025
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?
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Etablissements

Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données
AP-HP - Hôpital Armand Trousseau-La Roche Guyon Irène NETCHINE En recrutement IDF Contact (sur clinicalTrials)
AP-HP - Hôpital Necker-Enfants Malades Graziella PINTO En recrutement IDF Contact (sur clinicalTrials)
Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données
CHU d'Angers - Angers - France Patrice RODIEN Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Bicêtre - Le Kremlin-Bicêtre - France Agnès LINGLART En recrutement Contact (sur clinicalTrials)
Hôpital Brabois - Nancy - France Bruno LEHEUP Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Bretonneau - Tours - France Peggy PIERRE Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Civil - Strasbourg - France Nathalie GAUTHIER-JEANDIDIER Recrutement non commencé Contact (sur clinicalTrials)
Hôpital de la mère et de l'enfant - Limoges - France Anne LIENHARDT ROUSSIE Recrutement non commencé Contact (sur clinicalTrials)
Hôpital de la Pitié-Salpêtrière - Paris - France Christine POITOU-BERNERT En recrutement Contact (sur clinicalTrials)
Hôpital de la Timone - Marseille - France Tiffany BUSA En recrutement Contact (sur clinicalTrials)
Hôpital des Enfants - Toulouse - France Jean-Pierre SALLES Recrutement non commencé Contact (sur clinicalTrials)
Hôpital enfant-adolescent - Nantes - France Sabine BARON Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Femme Mère Enfant - Lyon - France Marc NICOLINO Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Gabriel Montpied - Clermont-Ferrand - France Igor TAUVERON Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Jean Minjoz - Besançon - France Brigitte MIGNOT Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Jeanne de Flandre - Lille - France Maryse CARTIGNY Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Robert Debré - Paris - France Nicolas DE ROUX Recrutement non commencé Contact (sur clinicalTrials)
Hôpital Sud - Rennes - France Sylvie ODENT En recrutement Contact (sur clinicalTrials)

Critères

Tous
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.