Skip to main content
OpenTrials
Enrolling by Invitation

NCT Number: NCT05214742

Developing Derived Induced Pluripotent Stem Cells as a Model to Understand Imprinted Disorders

Fetal and postnatal growth is finely regulated by genetic, epigenetic and environmental mechanisms. Parental imprinting is a regulatory mechanism that allows monoallelic expression of certain genes from a single parental allele through differential DNA methylation. Imprinted genes play a very important role in the control of fetal and postnatal growth. The pathophysiological mechanisms of these epimutations are largely unknown.

Studying the consequences of these epimutations on the molecular signature of the imprinted gene network in these patients would provide a better understanding of the epigenetic mechanisms regulating fetal growth. As these genes are weakly expressed in fibroblasts, these studies will be carried out on pluripotent stem cells or IPSCs (Induced Pluripotent Stem Cells).

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

Induced Pluripotent Stem Cells

Age range

3 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital Trousseau

Paris, 75012, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Minor or young adult patients treated in the department, suffering from rare growth diseases: Silver-Russell syndrome (SRS), Beckwith-Wiedemann syndrome (BWS) and Temple syndrome (TS)
  • For minors, the patient's weight must be ≥ 5 kg

Exclusion criteria

  • Patients unable to express their opposition to the use of their personal data.

Treatment and study plan

Diagnostic Test

Other

Molecular diagnosis carried out in the context of care

Primary outcomes

  1. The objective of the study is to understand the consequences of epimutations found

    Time frame: 1 day

    The objective of the study is to understand the consequences of epimutations found at 11p15 or 14q32 in these three syndromes (SRS, BWS and TS) on the network of genes subject to parental imprinting, in order to progress in the understanding of the mechanisms governing the epigenetic regulation of fetal growth.

Sponsors and collaborators

Lead sponsor

Institute of Cardiometabolism and Nutrition, France

Other

Registry information

Official study title

Developing Derived Induced Pluripotent Stem Cells From Blood as a Model for the Study to Understand Imprinted Disorders

Acronym: ID-STEM

Important dates

Study start
2022
Primary completion
2022
Study completion
2026
First posted
Jan 31, 2022
Registry last updated
Apr 28, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.