A Study of Multilocus Methylation Abnormalities in Subjects With Imprinting Disorders

NCT07497477 · tracked via the Priya Life Science France tracker

Sponsor

Assistance Publique - Hôpitaux de Paris

Phase

Not applicable

Started

2026-04

Last updated

2026-03-27

Condition(s) studied

Imprinting DisorderMLIDMulti-locus Imprinting DisturbanceDifferentially Methylated RegionsMolecular Diagnosis

Investigational drug(s) / intervention(s)

Methylation study

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

Study 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.

Eligibility

Sex

ALL

Min age

6 Months

Max age

70 Years

Healthy volunteers

Inclusion Criteria: 1. "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. OR 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). 2. Affiliation with a social security scheme or beneficiary (excluding AME). 3. Signature of the consent form by the subject's parents or guardians, or the subject if of age at the time of the study. Exclusion Criteria: * 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

Primary outcome measure(s)

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. — 30 month (end of the study)
Methylation index reference values for each DMR will be established from the 24 negative control subjects.

Trial sites (1)

Facility	City	Region	Status
Molecular Endocrinology and Imprinting disorder department - Trousseau Hospital	Paris	France

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07497477 on ClinicalTrials.gov ↗ ← All trials in France