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RNA clues may unlock hidden genetic causes of developmental disorders

NCT ID NCT06762678

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 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.

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 58 people

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

Started

Nov 2025

Expected to finish

May 2028

An estimate. End dates often move.

Lead sponsor

A government agency

The lead sponsor is a government body.

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 : * children or adult without any age limit, with neurodevelopmental disorders defined by : * between 0 and 5 years old with severe developmental delays regarding motor and/or language acquisitions, and/or social communication disorders, * \> 6 years old with intellectual deficiency whatever the severity (with if available, neuropsychological evaluation), with potential associated manifestations such as epilepsy and/or autism, and/or behaviour troubles and/or attention deficit hyperactivity disorder ; * with developmental anomalies and/or dimorphism ; * without any evidence of clinical diagnosis * negative chromosomal microarray and/or exome sequencing * negative fragile X syndrome * skin biopsy feasible or RNA sample extracted from fibroblast culture, available to be used in a research context inside the lab center * consent obtained from the participant or, consent from legal representatives for a minor patient or a patient unable to consent * participant affiliated to the french security regimen or equivalent Exclusion Criteria: * Neurodevelopmental disorders with developmental anomaly from non genetic causes or highly evident diagnosis for which a molecular test is available in routine practices and whose the cost is inferior than the cost of the genome and the RNA sequencing * unwillingness to participate, from the patient or from the legal representatives * Pregnant or lactating women

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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

How to take part

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

  1. The places running it

    7 sites. 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

  • 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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