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Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset

NCT06475651 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 63

Last updated 2026-03-27

No results posted yet for this study

Summary

It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are:

* It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues collected during the postmortem examination
* Fetal DNA Methylation Episignatures may be different to postanal DNA Methylation Episignatures defined on DNA extracted from blood

Conditions

  • Rare Fetal Genetic Diseases
  • Congenital Malformation

Interventions

GENETIC

Methylation analysis

Genomic DNA will be treated with bisulfite. 500 ng of processed DNA is then hybrized on an EPICv2 array Infinium methylation (Illumina, San Diego, CA, USA). This microarray enables the analysis of approximately 865 000 methylation sites at promoters, enhancers, CpG islands, intergenic and intragenic regions. It is the most widely used chip in the literature, including almost all of the EPIGENETIC SIGNATURES reported in human pathology.

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Manon TESSIER, MD, PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
0 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2026-02-26
Primary Completion
2026-08-26
Completion
2026-08-26

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06475651 on ClinicalTrials.gov