RNA clues may unlock hidden genetic causes of developmental disorders

NCT ID NCT06762678

First seen Jun 29, 2026 · Last updated Jun 30, 2026 · Updated 1 time

Summary

This study investigates whether adding RNA sequencing to standard DNA sequencing can help identify genetic causes of neurodevelopmental disorders that also involve physical birth defects. Many children with these conditions go years without a clear diagnosis. The research compares results from DNA sequencing alone versus DNA plus RNA sequencing in 58 patients and their parents. The goal is to see if the combined approach finds more disease-causing genetic variants.

What this could mean

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

Active substance

RNA sequencing and whole genome sequencing

What this could lead to

If successful, this approach could help more families get a genetic diagnosis for neurodevelopmental disorders, ending years of uncertainty.

What could go wrong

This is an early-stage study with only 58 participants. The added RNA test may not always find new answers, and results may not apply to everyone.

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.

neurodevelopmental disorder

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: •••••@•••••

Locations

  • Le Mans Hospital Center

    RECRUITING

    Le Mans, France

    Contact

  • University Hospital of Angers

    RECRUITING

    Angers, France

    Contact

  • University Hospital of Brest

    RECRUITING

    Brest, France

    Contact

  • University Hospital of Nantes

    NOT_YET_RECRUITING

    Nantes, France

    Contact

  • University Hospital of Rennes

    RECRUITING

    Rennes, France

    Contact

  • University Hospital of Tours

    NOT_YET_RECRUITING

    Tours, France

  • Vannes Hospital Center

    NOT_YET_RECRUITING

    Vannes, France

    Contact