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

NCT05214742 | Enrolling By Invitation

• 1 other identifier: 2021-A01597-34
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (3)

Silver-Russell Syndrome

Other: Diagnostic Test

Beckwith-Wiedemann Syndrome

Other: Diagnostic Test

Temple Syndrome

Other: Diagnostic Test

Interventions

Diagnostic Test OTHER

Molecular diagnosis carried out in the context of care

Beckwith-Wiedemann Syndrome; Silver-Russell Syndrome; Temple Syndrome

Eligibility Criteria

• Age: 3 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Institute of Cardiometabolism and Nutrition, France: lead

Study Sites (1)

Hôpital Trousseau

Paris, 75012, France

Location

Study Officials

• Irène NETCHINE

  Institut National de la Santé Et de la Recherche Médicale, France

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 17, 2022
• First Posted: January 31, 2022
• Study Start: January 19, 2022
• Primary Completion: January 30, 2022
• Study Completion (Estimated): December 1, 2026
• Last Updated: April 28, 2022

Record last verified: 2022-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Access Criteria: Partners

Locations

FR (1)