Actively Recruiting
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2026-03-27
63
Participants Needed
1
Research Sites
25 weeks
Total Duration
On this page
Sponsors
A
Assistance Publique - Hôpitaux de Paris
Lead Sponsor
U
URC-CIC Paris Descartes Necker Cochin
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Fetuses with postmortem exam and available DNA from lung or amniotic fluid within the Genomic Medicine of Rare Diseases department
- OR children cared for in the Genomic Medicine for Rare Diseases department with available DNA from whole blood
- Presence of pathogenic or probably pathogenic variation in CHD7, KMT2D, HYLS1, TCTN3, or FLVCR2 genes
- Parents have consented to molecular genetic testing for diagnosis and research
- For living participants: No objection from parents to reuse of clinical data and biological samples
- For deceased participants: Parental consent for research use of samples and no opposition to data reuse in medical records
You will not qualify if you...
- Refusal of postmortem examination in case of fetal loss
- Parents' refusal of molecular genetic investigations
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Department of Genomic Medicine for Rare Diseases and the Multidisciplinary Center for Prenatal Diagnosis of the Necker-Enfants malades Hospital
Paris, France, 75015
Actively Recruiting
Research Team
N
Nicolas BOURGON, MD, PhD
CONTACT
N
Nelly BRIAND, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
9
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