Autism Spectrum DisorderREDIANCT04043351
Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders
A study testing blood test in people with Autism Spectrum Disorder, run by University Hospital, Rouen at 1 site in France.
Trial summary
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Autism Spectrum Disorder
- What is being tested?
- blood test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 300 participants
- Where
- 1 siteFrance
- Study dates
- 12 Jun 2019to 19 Oct 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Patient who has already benefited from exome sequencing
- Person deprived of liberty by an administrative or judicial decision
- Pregnant or lactating woman
Trial locations and contacts
1 site in 1 country.
About this study
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).
- Conditions
- Autism Spectrum Disorder
- Being tested
- blood test
- Medical subject headings
- Autism Spectrum Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood testBiological
Performing exome sequencing in addition to the standard clinical workup, using DNA extracted from a blood sample collected as part of the patient's standard clinical workup
- Interpretation of genetic variations identified in the exome that affect genes on the pre-established list; potential use of parental samples for segregation analysis to aid in the interpretation of the patient's variations
- Preparation of a research report following any necessary clinical-biological comparison
| Study group | Role | What they receive |
|---|---|---|
| blood test | Experimental | Not described Receives: Biological: blood test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of unrelated index cases
at least one definite or probable risk factor or causal variant of a monogenic form of autism
Measured: through study completion, an average of 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2019
- Study start12 Jun 2019
- Primary completion19 Oct 2021
- Study completion19 Oct 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autism Spectrum DisorderStudies of the same condition, open and under way.
- More trials run by University Hospital, RouenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 300 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Rouen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- GAEL NICOLAS, Principal investigator, ROUEN HOSPITAL
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04043351
- Sponsor's protocol ID
- 2018/0417/HP
- Other IDs
- 2019-A00073-54
- Acronym
- REDIA
- Status last verified
- Jun 2026
- First submitted
- 23 Jul 2019
- Last updated
- 3 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders
- ClinicalTrials.gov ID
- NCT04043351
- Acronym / sponsor ID
- REDIA / 2018/0417/HP
- Conditions
- Autism Spectrum Disorder
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 300 participants (actual)
- Lead sponsor
- University Hospital, RouenUniversity, hospital or other
- Study start
- 12 Jun 2019 (actual)
- Primary completion
- 19 Oct 2021 (actual)
- Study completion
- 19 Oct 2021 (actual)
- First posted
- 2 Aug 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| blood test | Experimental | Biological: blood test |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (3 listed)
- Patient who has already benefited from exome sequencing
- Person deprived of liberty by an administrative or judicial decision
- Pregnant or lactating woman
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood testPerforming exome sequencing in addition to the standard clinical workup, using DNA extracted from a blood sample collected as part of the patient's standard clinical workup * Interpretation of genetic variations identified in the exome that affect genes on the pre-established list; potential use of parental samples for segregation analysis to aid in the interpretation of the patient's variations * Preparation of a research report following any necessary clinical-biological comparison | Biological | blood test |
Primary outcome
Proportion of unrelated index cases
Time frame: through study completion, an average of 4 years
at least one definite or probable risk factor or causal variant of a monogenic form of autism
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jun 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
GAEL NICOLAS principal investigator
ROUEN HOSPITAL
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood test in people with Autism Spectrum Disorder, run by University Hospital, Rouen at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of unrelated index cases (time frame: through study completion, an average of 4 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jun 2026.