NCT06475651 Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
| NCT ID | NCT06475651 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Assistance Publique - Hôpitaux de Paris |
| Condition | Rare Fetal Genetic Diseases |
| Study Type | OBSERVATIONAL |
| Enrollment | 63 participants |
| Start Date | 2026-02-26 |
| Primary Completion | 2026-08-26 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 63 participants in total. It began in 2026-02-26 with a primary completion date of 2026-08-26.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 Criteria
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
Contact & Investigator
Manon TESSIER, MD, PhD
STUDY DIRECTOR
Assistance Publique - Hôpitaux de Paris
Frequently Asked Questions
Who can join the NCT06475651 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 18 Years, studying Rare Fetal Genetic Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06475651 currently recruiting?
Yes, NCT06475651 is actively recruiting participants. Contact the research team at nicolas.bourgon@aphp.fr for enrollment information.
Where is the NCT06475651 trial being conducted?
This trial is being conducted at Paris, France.
Who is sponsoring the NCT06475651 clinical trial?
NCT06475651 is sponsored by Assistance Publique - Hôpitaux de Paris. The principal investigator is Manon TESSIER, MD, PhD at Assistance Publique - Hôpitaux de Paris. The trial plans to enroll 63 participants.