NCT07497477

Brief Summary

Imprinting disorders may be caused by epimutations. Some subjects exhibit methylation abnormalities in several regions subject to imprinting, a condition known as multilocus imprinting disorder (MLID). The prevalence of MLID is unknown, due to variations in the methodologies used (including technique employed and number of regions studied). The phenotypic consequences of MLID are also poorly understood. Studying the methylation of all the imprinted regions would make it possible to determine the prevalence of MLID as well as its clinical consequences.

Trial Health

63
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Trial Health Score

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

Enrollment
96

participants targeted

Target at P50-P75 for not_applicable

Timeline
29mo left

Started Apr 2026

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
not yet recruiting

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

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress4%
Apr 2026Oct 2028

First Submitted

Initial submission to the registry

March 23, 2026

Completed
4 days until next milestone

First Posted

Study publicly available on registry

March 27, 2026

Completed
5 days until next milestone

Study Start

First participant enrolled

April 1, 2026

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2028

Last Updated

March 27, 2026

Status Verified

March 1, 2026

Enrollment Period

2.5 years

First QC Date

March 23, 2026

Last Update Submit

March 23, 2026

Conditions

Imprinting DisorderMLIDMulti-locus Imprinting DisturbanceDifferentially Methylated RegionsMolecular Diagnosis

Keywords

Imprinting disorderMLIDMulti-locus imprinting disturbanceDMRDifferentially methylated regionsMolecular diagnosis

Outcome Measures

Primary Outcomes (1)

  • To validate the ability of a new technique (ImprintCap) to detect abnormal methylation levels from a population for which a methylation anomaly has been detected at a region by the reference technique.

    Methylation index reference values for each DMR will be established from the 24 negative control subjects.

    30 month (end of the study)

Secondary Outcomes (2)

  • To determine the proportion (%) of subjects with multilocus disease in the study population.

    30 month (end of the study)

  • To compare the phenotypic data (clinical and/or biological) collected during the usual follow-up consultations in the population of subjects with or without multilocus disease.

    30 month (end of the study)

Study Arms (2)

Negative control group

NO INTERVENTION

Control subjects from the DNA bank, subjects with normal methylation analysis using the reference technique, for whom the final diagnosis is a genetic rather than an epigenetic cause. This population will allow the establishment of normal reference values for the methylation index for each DMR studied using the newly developed technique.

Study population

EXPERIMENTAL

Subjects with a methylation anomaly in a previously identified imprinted region using the reference technique

Other: Methylation study

Interventions

Methylation studyOTHER

Methylation study by high-throughput sequencing technique after enzymatic DNA treatment and DMR capture

Study population

Eligibility Criteria

Age6 Months - 70 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • "Negative control" population: subjects who have undergone genetic exploration and:
  • Having had a study of normal methylation of the 11p15 region (H19/IGF2: IG-DMR and KCNQ1OT1:TSS-DMR) by the reference technique.
  • And having had a sequencing study of one or more genes involved in a growth pathology (Sanger sequencing and/or NGS analysis) and having concluded in the presence of a pathogenic variant responsible for the pathology.
  • Study population:
  • \- subjects who had undergone a reference genetic investigation (ASMM-RTqPCR) and for whom the final diagnosis was: gain or loss of methylation at the H19/IGF2:IG-DMR locus (BWS,SRS), at the KCNQ1OT1:TSS-DMR locus (BWS) or at the DLK1/MEG3:IG-DMR locus (TS14).
  • Affiliation with a social security scheme or beneficiary (excluding AME).
  • Signature of the consent form by the subject's parents or guardians, or the subject if of age at the time of the study.

You may not qualify if:

  • Inability of either the subject (if over 18) or the parents or holder of parental authority to receive informed information about the protocol.
  • Subject (if over 18) or parent or holder of parental authority deprived of their liberty by judicial or administrative decision

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Molecular Endocrinology and Imprinting disorder department - Trousseau Hospital

Paris, 75012, France

Location

MeSH Terms

Conditions

Imprinting Disorders

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Frédéric Brioude, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Frédéric BRIOUDE, MD, PhD

CONTACT

00 33 1 44 73 66 31frederic.brioude@aphp.fr

Marie-Pierre LUTON, PhD

CONTACT

+33(0) 1 87 89 26 00mariepierre.luton@aphp.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 23, 2026

First Posted

March 27, 2026

Study Start

April 1, 2026

Primary Completion (Estimated)

October 1, 2028

Study Completion (Estimated)

October 1, 2028

Last Updated

March 27, 2026

Record last verified: 2026-03

Locations

FR(1)