National Cohort on Imprinting Disorders and Their Metabolic Consequences

What this Trial Is About

Researchers are conducting an observational study to better understand the natural history of imprinting disorders (IDs) through their metabolic profiles in both adults and children. The study aims to identify common metabolic profiles among various imprinted diseases, assess their impact, associated metabolic risks, and explore their use for clinical classification, prognosis, and treatment approaches for IDs. The study is sponsored by the Institut National de la Santé Et de la Recherche Médicale, France. This study follows patients diagnosed with imprinting disorders confirmed by molecular diagnosis, regardless of disease severity. Participants include both adults and children who have provided informed consent or whose guardians have consented. The study does not involve any treatment interventions but focuses on gathering detailed clinical, genetic, biological, and morphometric data over time. Participants will be followed for an average of 10 years, during which researchers will collect information on clinical features, genetic and biological characteristics, and body measurements. The study will also monitor metabolic abnormalities and risks such as obesity, diabetes, cardiovascular disease, and metabolic syndrome. Quality-of-life scores and genetic mutation transmission within families will be analyzed. This long-term observation will help clarify therapeutic approaches and improve understanding of imprinting disorders.

IDMet (RaDiCo Cohort) (RaDiCo-IDMet)