Developing Derived Induced Pluripotent Stem Cells as a Model to Understand Imprinted Disorders (ID-STEM)

Developing Derived Induced Pluripotent Stem Cells From Blood as a Model for the Study 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).

Study Overview

• Status: Enrolling by invitation
• Conditions: Induced Pluripotent Stem Cells
• Intervention / Treatment: Other: Diagnostic Test

• Study Type: Observational
• Enrollment (Anticipated): 20

Contacts and Locations

Study Locations

• France
  • Paris, France, 75012
    • Hôpital Trousseau

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 months and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

During their follow-up visit, parents and patients who meet the inclusion criteria will be asked to participate in the study. In the case of minors, their personal adhesion will be sought if their capacity of comprehension allows it after adapted written information.

Description

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Silver-Russell Syndrome	Other: Diagnostic Test; Molecular diagnosis carried out in the context of care
Beckwith-Wiedemann Syndrome	Other: Diagnostic Test; Molecular diagnosis carried out in the context of care
Temple Syndrome	Other: Diagnostic Test; Molecular diagnosis carried out in the context of care

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The objective of the study is to understand the consequences of epimutations found	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.	1 day

Collaborators and Investigators

• Sponsor: Institute of Cardiometabolism and Nutrition, France
• Investigators: Principal Investigator: Irène NETCHINE, Institut National de la Santé Et de la Recherche Médicale, France

Study record dates

Study Major Dates

• Study Start (Actual): January 19, 2022
• Primary Completion (Actual): January 30, 2022
• Study Completion (Anticipated): December 1, 2026

Study Registration Dates

• First Submitted: January 17, 2022
• First Submitted That Met QC Criteria: January 17, 2022
• First Posted (Actual): January 31, 2022

Study Record Updates

• Last Update Posted (Actual): April 28, 2022
• Last Update Submitted That Met QC Criteria: April 27, 2022
• Last Verified: January 1, 2022

More Information

Terms related to this study

• Other Study ID Numbers: 2021-A01597-34

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: IPD will be sahred with partners
• IPD Sharing Access Criteria: Partners
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; ANALYTIC_CODE; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No