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Autism gene hunt: blood test may reveal hidden causes

NCT ID NCT04043351

Diagnosis Sponsor: University Hospital, Rouen 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
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study tested whether a blood test called exome sequencing can find genetic causes of autism better than standard care. Researchers studied 300 people with autism to see if the test could identify risk genes. The goal is to improve diagnosis and help families understand the biology behind autism.

What this could mean

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

Active substance
exome sequencing (a blood test to read genes)
What this could lead to
If successful, this could make genetic testing a routine part of autism diagnosis, helping families understand the cause and guiding personalized care.
What could go wrong
This is a completed diagnostic study, not a treatment trial. It may not find genetic causes for everyone, and results may not change current care.

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

300 people

The number who actually took part.

Started

Jun 2019

Finished

Oct 2021

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: * Patient with ASD who has been previously diagnosed by an expert center according to the DSM5 criteria using standardized instruments (ADOS, ADI-R), referred to genetic consultation by the psychiatrist who performed the clinical diagnosis, according to the recommendations of the HAS, and requesting a genetic analysis for medical purposes in this context. * Patient over 3 years old * Patient affiliated to a social security scheme * For minor patients: Holders of the exercise of parental authority who have read and understood the newsletter and signed the consent form * For a major patient: Major patient who has read and understood the newsletter and signed the consent form * Supervised minor / minor patient: Legal representative who has read and understood the newsletter and signed the consent form * Major patient under guardianship: Major patient assisted by his curator or by the judge having read and understood the newsletter and signed the consent form * DNA of the patient and parents available Exclusion Criteria: * Patient who has already benefited from exome sequencing * Person deprived of liberty by an administrative or judicial decision * Pregnant or lactating woman

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Conditions

The condition(s) this trial relates to.

autism spectrum disorder

As listed by the trial registrant

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

Autism spectrum disorder

Contacts and locations

Locations

  • DRCI

    Rouen, 76000, France

More trials for these conditions

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