Beyond the genome: new Multi-Omics approach aims to crack the code of intellectual disability

NCT ID NCT07755098

First seen Aug 10, 2026 · Last updated Aug 11, 2026 · Updated 1 time

Summary

This study tests whether combining several advanced genetic analysis techniques can find the cause of intellectual disability or neurodevelopmental disorders in people who have already had standard genetic testing with no answer. Participants will have their existing genetic data re-analyzed, and if that is not conclusive, they may undergo additional tests like long-read genome sequencing and RNA analysis. The goal is to see if these newer methods can provide a diagnosis where current methods have failed.

What this could mean

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

Active substance
Multi-omics diagnostic testing including re-analysis of short-read genome sequencing data, long-read genome sequencing, mRNA sequencing, and optical genome mapping
What this could lead to
If successful, this approach could provide answers for families who have been searching for a genetic cause of their child's neurodevelopmental disorder, potentially improving diagnosis and care.
What could go wrong
The trial is relatively small and the technologies are complex and costly. It may not find a diagnosis for everyone, and the results may not be widely available in routine practice for some time.

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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

Locations

  • Chu Dijon Bourgogne

    Dijon, 21000, France

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