Trial Now Recruiting: Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset (NCT06475651)
WHY IT MATTERS
This trial could improve how doctors diagnose rare genetic diseases in fetuses and newborns by establishing what normal DNA patterns look like before birth, which is currently unknown.
Researchers are looking for 63 participants to help them understand how DNA changes in babies before birth compare to DNA changes after birth. They want to collect DNA from amniotic fluid (the fluid around a baby in the womb) or from tissue samples after delivery to create a reference guide. This guide will help doctors better diagnose rare genetic diseases that start before birth.
NCT ID: NCT06475651 Status: RECRUITING Conditions: Rare Fetal Genetic Diseases, Congenital Malformation Enrollment: 63 Sponsor: Assistance Publique - Hôpitaux de Paris 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
YOU CAN ACT ON THIS
If you are pregnant and have been told your baby may have a rare genetic condition, or if you work with families affected by rare fetal genetic diseases, contact the trial team at Assistance Publique - Hôpitaux de Paris to ask about enrollment eligibility.