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

Launched by INSTITUTE OF CARDIOMETABOLISM AND NUTRITION, FRANCE · Jan 17, 2022

Keywords

ClinConnect Summary

This planned study will watch and learn from people with three rare growth disorders—Silver-Russell syndrome (SRS), Beckwith-Wiedemann syndrome (BWS), and Temple syndrome (TS)—to understand how certain epigenetic changes (epimutations) affect the network of genes that control growth. It’s an observational study, meaning researchers will observe and gather data rather than give a new treatment. They hope to see how these epimutations at specific genome regions (11p15 or 14q32) influence fetal and postnatal growth by looking at the genes that are regulated by parental imprinting. The study will involve samples and analysis that may help explain why growth varies in these conditions.

About 20 participants are planned, and they will be children, young adults, or older adults who have SRS, BWS, or TS. Key eligibility includes being a patient in the department who meets the disease criteria, with minors needing to weigh at least 5 kg, and the person or parent able to consent to use of their personal data. Exclusion applies if someone cannot express their choice about data use. The study will be carried out at Hôpital Trousseau in Paris, led by Irène Netchine, with diagnostic tests already part of regular care and, in some cases, the creation of induced pluripotent stem cells from blood to study the imprinting gene network. The study is enrolling by invitation and aims to complete around 2026, with data and samples potentially shared with partner researchers to advance understanding of imprinting and fetal growth.

Gender

ALL

Eligibility criteria

• 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.