NCT07436195

Imprinting in Metabolic Diseases - Identifying Epigenetic Mechanisms in Human Gestational Diabetes Through Cell-free DNA

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 80 (estimated)
• Sponsor: University of Ulm · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

This clinical trials aims to investigate the impact of parental metabolism during pregnancy on fetal epigenetic signatures. The metabolic profiles of both parents will be evaluated through a blood sample collected from the father and an oral glucose tolerance test administered to the pregnant mother. Additionally, epigenetic signatures will be assessed using parental blood samples. Fetal epigenetic signatures can be identified by analyzing fetal cell-free DNA that circulates in the mother's bloodstream.

Detailed description

Epigenetic patterns inherited from both parents significantly influence gene expression and disease susceptibility in their offspring, with particularly negative effects in gestational diabetes, as indicated in animal and observational studies. However, human studies are limited due to the complexity and ethical concerns of collecting samples from fetuses and newborns. Invasive fetal sampling methods carry a risk of pregnancy loss, but the discovery of fetal cell-free DNA in maternal blood has revolutionized prenatal diagnostics by providing a non-invasive alternative. Recent advancements have made it possible to use cell-free DNA analyses also for epigenetic characterizations. The primary objective of this project is to elucidate the bidirectional epigenetic interactions between maternal gestational metabolism and the fetal epigenome, with a focus on identifying and understanding the biological impacts of epigenetic modifications in both the mother and fetus. Additionally, the research seeks to uncover epigenetic biomarkers that are linked to gestational diabetes and to assess the influence of parental epigenetic marks on the fetus. It will examine how parental epigenetics and parental glucose metabolism affects these modifications, facilitating a detailed analysis of the origins and mechanisms of epigenetic transmission. We will recruit couples between gestational weeks 24 and 28, with and without gestational diabetes, and perform metabolic characterizations. Maternal cell-free DNA (including fetal DNA), maternal nuclear DNA, and paternal nuclear and cell-free DNA will be collected for methylation analyses.

Conditions

• Gestational Diabetes Mellitus (GDM)

Interventions

Type	Name	Description
OTHER	Metabolic and epigenetic characterization of parents ans fetuses	Pregnant women will undergo an oral glucose tolerance test to characterize metabolism and assess the presence of gestational diabetes. Moreover, they will undergo blood sampling to assess the mothers' epigenetic signatures and the fetal epigenetic signatures based on circulating fetal cell-free DNA. Fathers will undergo (if possible fasting) blood sample to characterize metabolism and epigenetic signatures

Timeline

• Start date: 2026-03-30
• Primary completion: 2028-03-01
• Completion: 2028-07-01
• First posted: 2026-02-27
• Last updated: 2026-04-07

Locations

1 site across 1 country: Germany