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
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This is a summary of
the original study
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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.
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.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Le Mans Hospital Center
RECRUITINGLe Mans, France
Contact
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University Hospital of Angers
RECRUITINGAngers, France
Contact
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University Hospital of Brest
RECRUITINGBrest, France
Contact
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University Hospital of Nantes
NOT_YET_RECRUITINGNantes, France
Contact
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University Hospital of Rennes
RECRUITINGRennes, France
Contact
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University Hospital of Tours
NOT_YET_RECRUITINGTours, France
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Vannes Hospital Center
NOT_YET_RECRUITINGVannes, France
Contact