IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

Prader-Willi Syndrome Clinical Trial

— IDMet  

Official title:

National Cohort on Imprinting Disorders and Their Metabolic Consequences

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05945576
• Other study ID #: C15-63
• Status: Recruiting
• Start date: March 10, 2017
• Est. completion date: March 10, 2032

Study information

• Verified date: June 2023
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: Agnès LINGLART
• Phone: +33 1 45 21 78 53
• Email: agnes.linglart[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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?

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: March 10, 2032
• Est. primary completion date: March 10, 2032
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Angelman Syndrome
• Beckwith-Wiedemann Syndrome
• Prader-Willi Syndrome
• Pseudohypoparathyroidism
• Puberty, Precocious
• Silver Russell Syndrome
• Syndrome

Locations

Country	Name	City	State
France	CHU d'Angers	Angers
France	Hôpital Jean Minjoz	Besançon
France	Hôpital Gabriel Montpied	Clermont-Ferrand
France	Hôpital Bicêtre	Le Kremlin-Bicêtre
France	Hôpital Jeanne de Flandre	Lille
France	Hôpital de la mère et de l'enfant	Limoges
France	Hôpital Femme Mère Enfant	Lyon
France	Hôpital de la Timone	Marseille
France	Hôpital Brabois	Nancy
France	Hôpital enfant-adolescent	Nantes
France	Hôpital Armand-Trousseau	Paris
France	Hôpital de la Pitié-Salpêtrière	Paris
France	Hôpital de la Pitié-Salpêtrière	Paris
France	Hôpital Necker Enfants Malades	Paris
France	Hôpital Robert Debré	Paris
France	Hôpital Sud	Rennes
France	Hôpital Civil	Strasbourg
France	Hôpital des Enfants	Toulouse
France	Hôpital des Enfants	Toulouse
France	Hôpital Bretonneau	Tours

Sponsors (1)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Identification of different metabolic profile which allow a clinical classification of IDs.		Through study completion, an average of 10 years
Other	Description and identification of the most relevant biological and clinical practices for diagnostic and follow-up of ID patients.		Through study completion, an average of 10 years
Other	Identification of a group of French patients with the same characteristics.		At inclusion
Other	Search of an association between blood metabolic markers, genetic pattern and gut microbiota.		Through study completion, an average of 10 years
Other	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).		Through study completion, an average of 10 years
Primary	The clinical characteristics of IDs in pediatric and adult's patients.		Through study completion, an average of 10 years
Primary	The genetic characteristics of IDs in pediatric and adult's patients.		Through study completion, an average of 10 years
Primary	The biological characteristics of IDs in pediatric and adult's patients.		Through study completion, an average of 10 years
Primary	The morphometric characteristics of IDs in pediatric and adult's patients.		Through study completion, an average of 10 years
Secondary	Search for an association between the metabolic phenotype of IDs patients' and their biological profil.		At the time of diagnosis (or at first measurement)
Secondary	Determination of the prevalence of metabolic abnormalities (MA).		At inclusion
Secondary	Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome.		10 years after
Secondary	Description of different therapeutic approaches and identification of a common base for all IDs.		Through study completion, an average of 10 years
Secondary	Variations of quality-of-life scores.		Through study completion, an average of 10 years
Secondary	Analyse of (epi)genetic mutations transmission in proband and relatives.		Through study completion, an average of 10 years