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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-01-19

Study Completion Date

2026-12-31

Brief Summary

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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).

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Detailed Description

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Conditions

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Induced Pluripotent Stem Cells

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Silver-Russell Syndrome

Diagnostic Test

Intervention Type OTHER

Molecular diagnosis carried out in the context of care

Beckwith-Wiedemann Syndrome

Diagnostic Test

Intervention Type OTHER

Molecular diagnosis carried out in the context of care

Temple Syndrome

Diagnostic Test

Intervention Type OTHER

Molecular diagnosis carried out in the context of care

Interventions

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Diagnostic Test

Molecular diagnosis carried out in the context of care

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

1. 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)
2. For minors, the patient's weight must be ≥ 5 kg