IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

Institut National de la Santé Et de la Recherche Médicale, France

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT05945576

C15-63

Details and patient eligibility

About

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?

Enrollment: 2,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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.