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

NCT06475651 · tracked via the Priya Life Science France tracker

Sponsor

Assistance Publique - Hôpitaux de Paris

Phase

Observational

Started

2026-02-26

Last updated

2026-03-27

Condition(s) studied

Rare Fetal Genetic DiseasesCongenital Malformation

Investigational drug(s) / intervention(s)

Methylation analysis

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.

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

Eligibility

Sex

ALL

Min age

0 Years

Max age

18 Years

Healthy volunteers

Accepted

Inclusion Criteria: * Patient Inclusion Criteria: * Fetuses with a postmortem examination as part of the etiological diagnosis of developmental abnormality within the Genomic Medicine of Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from lung and amniotic fluid is available * OR a child cared for in the Genomic Medicine for Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from whole blood is available * with pathogenic or probably pathogenic variation in a gene following CHD7, KMT2D, HYLS1, TCTN3 or FLVCR2 * whose parents have consented to molecular genetic testing as part of diagnosis and research * Negative Controls : * Fetuses with a postmortem examination as part of the etiological diagnosis of developmental abnormality within the Genomic Medicine of Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from lung and amniotic fluid are available * OR a child cared for in the Genomic Medicine for Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from whole blood is available * does not have pathogenic or probably pathogenic variation in a gene following CHD7, KMT2D, HYLS1, TCTN3 or FLVCR2 * whose parents have consented to molecular genetic testing as part of diagnosis and research * For everyone: • For living participants: Non-objection by holders of parental authority to the reuse of clinical data and biological samples collected and stored in the context of care (consent of care). • For deceased participants: * Consent of the holders of parental authority to the use of the samples kept for research purposes, signed as part of the treatment * No mention of opposition to the reuse of clinical data from the treatment in the patient's medical record Exclusion Criteria: * Refusal of postmortem examination in case of fetal loss * Parents' refusal of molecular investigations

Primary outcome measure(s)

Epigenetic signature associated with pathogenic variations in the CHD7 gene (CHARGE Syndrome) — 12 months
Evidence of epigenetic signature from fetal tissue DNA in fetuses with pathogenic or probably pathogenic variation
Epigenetic signature associated with pathogenic variations in the KMT2D gene (KABUKI syndrome) — 12 months
Evidence of epigenetic signature from fetal tissue DNA in fetuses with pathogenic or probably pathogenic variation

Trial sites (1)

Facility	City	Region	Status
Department of Genomic Medicine for Rare Diseases and the Multidisciplinary Center for Prenatal Diagnosis of the Necker-Enfants malades Hospital	Paris	France	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06475651 on ClinicalTrials.gov ↗ ← All trials in France