Developing Derived Induced Pluripotent Stem Cells as a Model to Understand Imprinted Disorders
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Diagnostic Test.
- Who it may be relevant to
- Registry conditions: Induced Pluripotent Stem Cells. Basic parameters: from 3 months · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Developing Derived Induced Pluripotent Stem Cells From Blood as a Model for the Study to Understand Imprinted Disorders
Overview
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).
Interventions
- Other Diagnostic Test
Molecular diagnosis carried out in the context of care
Primary outcome measures
- The objective of the study is to understand the consequences of epimutations found [Time frame: 1 day]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- Patients unable to express their opposition to the use of their personal data.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
France · 1 center
- Hôpital Trousseau — Paris
Identifiers
NCT: NCT05214742 · 2021-A01597-34