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Recruiting NCT05945576

IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

— Observational Silver Russell Syndrome Beckwith-Wiedemann Syndrome Transient Neonatal Diabetes Mellitus Angelman Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

National Cohort on Imprinting Disorders and Their Metabolic Consequences

Overview

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?

Primary outcome measures

  • The clinical characteristics of IDs in pediatric and adult's patients. [Time frame: Through study completion, an average of 10 years]
  • The genetic characteristics of IDs in pediatric and adult's patients. [Time frame: Through study completion, an average of 10 years]
  • The biological characteristics of IDs in pediatric and adult's patients. [Time frame: Through study completion, an average of 10 years]
  • The morphometric characteristics of IDs in pediatric and adult's patients. [Time frame: Through study completion, an average of 10 years]
Secondary outcome measures (6)
  • Search for an association between the metabolic phenotype of IDs patients' and their biological profil. [Time frame: At the time of diagnosis (or at first measurement)]
  • Determination of the prevalence of metabolic abnormalities (MA). [Time frame: At inclusion]
  • Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome. [Time frame: 10 years after]
  • Description of different therapeutic approaches and identification of a common base for all IDs. [Time frame: Through study completion, an average of 10 years]
  • Variations of quality-of-life scores. [Time frame: Through study completion, an average of 10 years]
  • Analyse of (epi)genetic mutations transmission in proband and relatives. [Time frame: Through study completion, an average of 10 years]

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

France · 20 centers
  • CHU d'Angers — Angers
  • Hôpital Jean Minjoz — Besançon
  • Hôpital Gabriel Montpied — Clermont-Ferrand
  • Hôpital Bicêtre — Le Kremlin-Bicêtre
  • Hôpital Jeanne de Flandre — Lille
  • Hôpital de la mère et de l'enfant — Limoges
  • Hôpital Femme Mère Enfant — Lyon
  • Hôpital de la Timone — Marseille
  • … and 12 more centers

Identifiers

NCT: NCT05945576 · C15-63

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗