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

NCT05214742 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2022-04-28

No results posted yet for this study

Summary

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).

Conditions

  • Induced Pluripotent Stem Cells

Interventions

OTHER

Diagnostic Test

Molecular diagnosis carried out in the context of care

Sponsors & Collaborators

  • Institute of Cardiometabolism and Nutrition, France

    lead OTHER

Principal Investigators

  • Irène NETCHINE · Institut National de la Santé Et de la Recherche Médicale, France

Eligibility

Min Age
3 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-01-19
Primary Completion
2022-01-30
Completion
2026-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05214742 on ClinicalTrials.gov