Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- Your child (born or unborn) is being cared for or was examined after loss at Necker Children's Hospital in the Genomic Medicine for Rare Diseases department, and a DNA sample is available from lung tissue, amniotic fluid, or blood
- Your child has been found to have a significant genetic change in one of these specific genes: CHD7, KMT2D, HYLS1, TCTN3, or FLVCR2 (this applies to main participants; some participants without these changes may also be included as comparison cases)
- Parents or guardians have agreed to genetic testing as part of diagnosis and research
- For living children: parents or guardians have not objected to their child's medical data and stored samples being used in research
- For children who have passed away: parents or guardians previously gave consent for samples to be kept for research, and there is no record of objection to reusing medical data
Who may not be able to join:
- Parents or guardians who refused a post-mortem (after-death) examination following pregnancy loss
- Parents or guardians who have refused genetic or molecular testing for their child
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: Manon TESSIER, MD, PhD, Assistance Publique - Hôpitaux de Paris
Phone: +33 1 42 19 27 96
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
Epigenetic signature associated with pathogenic variations in the CHD7 gene (CHARGE Syndrome); Epigenetic signature associated with pathogenic variations in the KMT2D gene (KABUKI syndrome)
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.