Clinical trial NCT05945576: IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
Official title: National Cohort on Imprinting Disorders and Their Metabolic Consequences
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
First posted: 2023-07-14
Enrollment: 2000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

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?


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.

Primary outcomes:
measure: The clinical characteristics of IDs in pediatric and adult's patients.
timeFrame: Through study completion, an average of 10 years
measure: The genetic characteristics of IDs in pediatric and adult's patients.
timeFrame: Through study completion, an average of 10 years
measure: The biological characteristics of IDs in pediatric and adult's patients.
timeFrame: Through study completion, an average of 10 years
measure: The morphometric characteristics of IDs in pediatric and adult's patients.
timeFrame: Through study completion, an average of 10 years
Secondary outcomes:
measure: Search for an association between the metabolic phenotype of IDs patients' and their biological profil.
timeFrame: At the time of diagnosis (or at first measurement)
measure: Determination of the prevalence of metabolic abnormalities (MA).
timeFrame: At inclusion
measure: Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome.
timeFrame: 10 years after
measure: Description of different therapeutic approaches and identification of a common base for all IDs.
timeFrame: Through study completion, an average of 10 years
measure: Variations of quality-of-life scores.
timeFrame: Through study completion, an average of 10 years
measure: Analyse of (epi)genetic mutations transmission in proband and relatives.
timeFrame: Through study completion, an average of 10 years
Other outcomes:
measure: Identification of different metabolic profile which allow a clinical classification of IDs.
timeFrame: Through study completion, an average of 10 years
measure: Description and identification of the most relevant biological and clinical practices for diagnostic and follow-up of ID patients.
timeFrame: Through study completion, an average of 10 years
measure: Identification of a group of French patients with the same characteristics.
timeFrame: At inclusion
measure: Search of an association between blood metabolic markers, genetic pattern and gut microbiota.
timeFrame: Through study completion, an average of 10 years
measure: Description of different scientific rational for transferring a therapeutic approach (clinical guidelines) from an ID to another (identification of common phenotype, i.e. metabolic profile).
timeFrame: Through study completion, an average of 10 years
Locations:
city: Angers
country: France
facility: CHU d'Angers
city: Besançon
country: France
facility: Hôpital Jean Minjoz
city: Clermont-Ferrand
country: France
facility: Hôpital Gabriel Montpied
city: Le Kremlin-Bicêtre
country: France
facility: Hôpital Bicêtre
city: Lille
country: France
facility: Hôpital Jeanne de Flandre
city: Limoges
country: France
facility: Hôpital de la mère et de l'enfant
city: Lyon
country: France
facility: Hôpital Femme Mère Enfant
city: Marseille
country: France
facility: Hôpital de la Timone
city: Nancy
country: France
facility: Hôpital Brabois
city: Nantes
country: France
facility: Hôpital enfant-adolescent
city: Paris
country: France
facility: Hôpital Armand-Trousseau
city: Paris
country: France
facility: Hôpital de la Pitié-Salpêtrière
city: Paris
country: France
facility: Hôpital de la Pitié-Salpêtrière
city: Paris
country: France
facility: Hôpital Necker Enfants Malades
city: Paris
country: France
facility: Hôpital Robert Debré
city: Rennes
country: France
facility: Hôpital Sud
city: Strasbourg
country: France
facility: Hôpital Civil
city: Toulouse
country: France
facility: Hôpital des Enfants
city: Toulouse
country: France
facility: Hôpital des Enfants
city: Tours
country: France
facility: Hôpital Bretonneau
Study officials:
affiliation: Inserm U1169
name: Agnès LINGLART
role: PRINCIPAL_INVESTIGATOR
References: