NCT05945576

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?

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,000

participants targeted

Target at P75+ for all trials

Timeline
22mo left

Started Mar 2017

Longer than P75 for all trials

Geographic Reach
1 country

20 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress83%
Mar 2017Mar 2028

Study Start

First participant enrolled

March 10, 2017

Completed
6.3 years until next milestone

First Submitted

Initial submission to the registry

June 26, 2023

Completed
18 days until next milestone

First Posted

Study publicly available on registry

July 14, 2023

Completed
4.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2028

Last Updated

February 12, 2026

Status Verified

February 1, 2026

Enrollment Period

11 years

First QC Date

June 26, 2023

Last Update Submit

February 10, 2026

Conditions

Outcome Measures

Primary Outcomes (4)

  • 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 biological 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 Outcomes (6)

  • 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

  • +1 more secondary outcomes

Other Outcomes (5)

  • Identification of different metabolic profile which allow a clinical classification of IDs.

    Through study completion, an average of 10 years

  • 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

  • Identification of a group of French patients with the same characteristics.

    At inclusion

  • +2 more other outcomes

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (20)

CHU d'Angers

Angers, France

NOT YET RECRUITING

Hôpital Jean Minjoz

Besançon, France

NOT YET RECRUITING

Hôpital Gabriel Montpied

Clermont-Ferrand, France

NOT YET RECRUITING

Hôpital Bicêtre

Le Kremlin-Bicêtre, France

RECRUITING

Hôpital Jeanne de Flandre

Lille, France

NOT YET RECRUITING

Hôpital de la mère et de l'enfant

Limoges, France

NOT YET RECRUITING

Hôpital Femme Mère Enfant

Lyon, France

NOT YET RECRUITING

Hôpital de la Timone

Marseille, France

RECRUITING

Hôpital Brabois

Nancy, France

NOT YET RECRUITING

Hôpital enfant-adolescent

Nantes, France

NOT YET RECRUITING

Hôpital Armand-Trousseau

Paris, France

RECRUITING

Hôpital de la Pitié-Salpêtrière

Paris, France

RECRUITING

Hôpital de la Pitié-Salpêtrière

Paris, France

RECRUITING

Hôpital Necker Enfants Malades

Paris, France

RECRUITING

Hôpital Robert Debré

Paris, France

NOT YET RECRUITING

Hôpital Sud

Rennes, France

RECRUITING

Hôpital Civil

Strasbourg, France

NOT YET RECRUITING

Hôpital des Enfants

Toulouse, France

RECRUITING

Hôpital des Enfants

Toulouse, France

NOT YET RECRUITING

Hôpital Bretonneau

Tours, France

NOT YET RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Stool collection

MeSH Terms

Conditions

Silver-Russell SyndromeBeckwith-Wiedemann SyndromeAngelman SyndromePrader-Willi SyndromeTemple syndromeUniparental disomy, paternal, chromosome 14PseudohypoparathyroidismPuberty, Precocious

Condition Hierarchy (Ancestors)

Craniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornDwarfismImprinting DisordersMovement DisordersCentral Nervous System DiseasesNervous System DiseasesIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsObesityOverweightOvernutritionNutrition DisordersNutritional and Metabolic DiseasesBone Diseases, MetabolicBone DiseasesMetal Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsMetabolic DiseasesCalcium Metabolism DisordersGonadal DisordersEndocrine System Diseases

Study Officials

  • Agnès LINGLART

    Inserm U1169

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Irène NETCHINE

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 26, 2023

First Posted

July 14, 2023

Study Start

March 10, 2017

Primary Completion (Estimated)

March 1, 2028

Study Completion (Estimated)

March 1, 2028

Last Updated

February 12, 2026

Record last verified: 2026-02

Locations