NCT05945576

IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

National Cohort on Imprinting Disorders and Their Metabolic Consequences

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 2,000 (estimated)
• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France · Other Government
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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?

Conditions

• Silver Russell Syndrome
• Beckwith-Wiedemann Syndrome
• Transient Neonatal Diabetes Mellitus
• Angelman Syndrome
• Prader-Willi Syndrome
• Temple Syndrome
• Kagami-Ogata Syndrome
• Pseudohypoparathyroidism
• Familial Precocious Puberty

Timeline

• Start date: 2017-03-10
• Primary completion: 2028-03-01
• Completion: 2028-03-01
• First posted: 2023-07-14
• Last updated: 2026-02-12

Locations

20 sites across 1 country: France