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

Institute of Cardiometabolism and Nutrition, France

Status: Invitation-only

Conditions: Induced Pluripotent Stem Cells

Treatments: Other: Diagnostic Test

Study type: Observational

Funder types: Other

Identifiers

NCT05214742

2021-A01597-34

Details and patient eligibility

About

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).

Enrollment: 20 estimated patients

Sex: All

Ages: 3+ months old

Volunteers: No Healthy Volunteers

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.

Trial design

20 participants in 3 patient groups

Silver-Russell Syndrome

Treatment:

Other: Diagnostic Test

Beckwith-Wiedemann Syndrome

Treatment:

Other: Diagnostic Test

Temple Syndrome

Treatment:

Other: Diagnostic Test