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

Not yet recruitingOBSERVATIONAL
Enrollment

63

Participants

Timeline

Start Date

June 30, 2024

Primary Completion Date

December 31, 2024

Study Completion Date

December 31, 2024

Conditions
Rare Fetal Genetic DiseasesCongenital 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.

Trial Locations (1)

75015

Department of Genomic Medicine for Rare Diseases and the Multidisciplinary Center for Prenatal Diagnosis of the Necker-Enfants malades Hospital, Paris

All Listed Sponsors
lead

Assistance Publique - Hôpitaux de Paris

OTHER

NCT06475651 - Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset | Biotech Hunter | Biotech Hunter