Scientists investigate hidden genetic patterns in rare childhood disorders
NCT ID NCT07497477
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study aims to better understand a condition called multilocus imprinting disorder (MLID), where multiple genes are affected by abnormal chemical marks. Researchers will test a new technique to detect these marks in 96 people, including those with known imprinting disorders and healthy controls. The goal is to learn how common MLID is and what health problems it may cause.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 96 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Apr 2026
An estimate. Start dates often move.
- Expected to finish
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Oct 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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6 months to 70 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Molecular Endocrinology and Imprinting disorder department - Trousseau Hospital
Paris, 75012, France
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