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

NCT ID NCT07755098

Diagnosis Sponsor: Centre Hospitalier Universitaire Dijon Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

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

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 132 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Sep 2026

An estimate. Start dates often move.

Expected to finish

Mar 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Index case (minor or adult) with severe to profound intellectual disability or syndromic neurodevelopmental disorder without an identified molecular diagnosis. - Index case with a negative srGS result. * Sample collection possible from the index case (blood and skin biopsy) and their biological parent(s) (blood) if material is not otherwise available. * Signed consent from the adult index case, or from the legal representatives or guardian (as applicable) of a minor index case, and from their parent(s). Exclusion Criteria: * \- Index case or parent(s) not affiliated with or not covered by a social security scheme. * Diagnostic hypothesis considered highly probable, for which an available targeted molecular test costs less than the proposed strategy. * Suspicion of an acquired cause for the symptoms. * Minor parent(s). * Parent subject to a legal protection measure, or incapacitated or otherwise unable to provide informed consent. * Pregnant, birthing, or breastfeeding woman. * Participant (index case or parent) who has previously undergone allogeneic hematopoietic stem cell transplantation, rendering blood sample analysis uninformative.

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Conditions

The condition(s) this trial relates to.

disease intellectual disability neurodevelopmental disorder Silver-Russell syndrome

As listed by the trial registrant

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

Intellectual disability Long-read genome sequencing LRGS Neurodevelopmental disorder (diagnosis) Short-read genome sequencing SRGS

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Chu Dijon Bourgogne

    Dijon, 21000, France

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