Scientists map DNA 'Signatures' in rare fetal diseases

NCT ID NCT06475651

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 2 times

Summary

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The study involves 63 participants and is currently recruiting.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this could help doctors diagnose rare fetal genetic diseases more accurately using DNA methylation patterns.

What could go wrong

This is an early-stage observational study with only 63 participants. It does not test a treatment, so it may not directly lead to new therapies.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

CHARGE syndrome Congenital Abnormalities developmental defect during embryogenesis hydrolethalus syndrome 1 Kabuki syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

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

    RECRUITING

    Paris, 75015, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••