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

Induced Pluripotent Stem Cells Clinical Trial

— ID-STEM  

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT05214742
• Other study ID #: 2021-A01597-34
• Status: Enrolling by invitation
• Start date: January 19, 2022
• Est. completion date: December 2026

Study information

• Verified date: January 2022
• Source: Institute of Cardiometabolism and Nutrition, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 20
• Est. completion date: December 2026
• Est. primary completion date: January 30, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Months and older

Eligibility

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.

Related Conditions & MeSH terms

• Induced Pluripotent Stem Cells

Intervention

Other:
• Diagnostic Test
Molecular diagnosis carried out in the context of care

Locations

Country	Name	City	State
France	Hôpital Trousseau	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Institute of Cardiometabolism and Nutrition, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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