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Saliva test may unlock genetic secrets missed by blood tests

NCT ID NCT07492199

Diagnosis Sponsor: Centre Hospitalier Universitaire de Besancon 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tests whether a simple saliva swab can find genetic causes of neurodevelopmental or intellectual disorders when standard blood tests have not. Researchers will use advanced DNA sequencing on cheek cells from 50 participants. The goal is to improve diagnosis and help guide care and genetic counseling.

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.

Participants

About 50 people

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

Expected to start

Apr 2026

An estimate. Start dates often move.

Expected to finish

Apr 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.

Who is studied

Men and women of all ages with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD) and a trio genome sequencing on blood inconclusive

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: * Patient with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD) * Trio genome sequencing on blood inconclusive * Men and women * All ages * No objection to participating in the study * Affiliation with a French social security system or beneficiary of such a system Exclusion Criteria: * Pregnant women and nursing mothers * Persons deprived of their liberty by judicial or administrative decision; persons undergoing compulsory psychiatric care; persons admitted to a health or social care facility for purposes other than research * Subjects who are in the exclusion period of another study or listed in the "national volunteer registry" * Genetic cause identified in the preliminary etiological assessment * Phenocopy: other likely non-genetic cause of TND (perinatal anoxia, infection, trauma, etc.) * Patients without health insurance * Patients unlikely to cooperate with the study and/or anticipated low cooperation by the investigator

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Conditions

The condition(s) this trial relates to.

intellectual developmental disorder 61 intellectual disability neurodevelopmental disorder

As listed by the trial registrant

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

Intellectual developmental disorder Intellectual developmental disorders Neurodevelopmental disorders Syndromic neurodevelopmental disorders (NDDS)

How to take part

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

  1. 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 ↗

  2. 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.

More trials for these conditions

Other studies related to the condition(s) this trial covers.