RNA clues may unlock hidden genetic causes of developmental disorders

NCT ID NCT06762678

Recruiting now Diagnosis Sponsor: University Hospital, Angers Source: ClinicalTrials.gov ↗

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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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.

NEURODEVELOPMENTAL DISORDERS AND DEVELOPMENTAL ABNORMALITIES

Contacts and locations

Locations

Le Mans Hospital Center
RECRUITING

Le Mans, France
University Hospital of Angers
RECRUITING

Angers, France
University Hospital of Brest
RECRUITING

Brest, France
University Hospital of Nantes
NOT_YET_RECRUITING

Nantes, France
University Hospital of Rennes
RECRUITING

Rennes, France
University Hospital of Tours
NOT_YET_RECRUITING

Tours, France
Vannes Hospital Center
NOT_YET_RECRUITING

Vannes, France

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