IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
- Conditions
- Silver Russell SyndromeTransient Neonatal Diabetes MellitusPrader-Willi SyndromeKagami-Ogata SyndromeBeckwith-Wiedemann SyndromeAngelman SyndromeTemple SyndromePseudohypoparathyroidismFamilial Precocious Puberty
- Registration Number
- NCT05945576
- Lead Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
- Brief 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?
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 2000
- 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.
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The biological characteristics of IDs in pediatric and adult's patients. Through study completion, an average of 10 years The clinical characteristics of IDs in pediatric and adult's patients. Through study completion, an average of 10 years The genetic characteristics of IDs in pediatric and adult's patients. Through study completion, an average of 10 years The morphometric characteristics of IDs in pediatric and adult's patients. Through study completion, an average of 10 years
- Secondary Outcome Measures
Name Time Method Search for an association between the metabolic phenotype of IDs patients' and their biological profil. At the time of diagnosis (or at first measurement) Determination of the prevalence of metabolic abnormalities (MA). At inclusion Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome. 10 years after Description of different therapeutic approaches and identification of a common base for all IDs. Through study completion, an average of 10 years Variations of quality-of-life scores. Through study completion, an average of 10 years Analyse of (epi)genetic mutations transmission in proband and relatives. Through study completion, an average of 10 years
Trial Locations
- Locations (18)
Hôpital Gabriel Montpied
🇫🇷Clermont-Ferrand, France
Hôpital Jean Minjoz
🇫🇷Besançon, France
CHU d'Angers
🇫🇷Angers, France
Hôpital Femme Mère Enfant
🇫🇷Lyon, France
Hôpital Brabois
🇫🇷Nancy, France
Hôpital Necker Enfants Malades
🇫🇷Paris, France
Hôpital Robert Debré
🇫🇷Paris, France
Hôpital Bicêtre
🇫🇷Le Kremlin-Bicêtre, France
Hôpital Jeanne de Flandre
🇫🇷Lille, France
Hôpital de la mère et de l'enfant
🇫🇷Limoges, France
Hôpital de la Timone
🇫🇷Marseille, France
Hôpital enfant-adolescent
🇫🇷Nantes, France
Hôpital Armand-Trousseau
🇫🇷Paris, France
Hôpital de la Pitié-Salpêtrière
🇫🇷Paris, France
Hôpital Civil
🇫🇷Strasbourg, France
Hôpital Sud
🇫🇷Rennes, France
Hôpital des Enfants
🇫🇷Toulouse, France
Hôpital Bretonneau
🇫🇷Tours, France