Autism Spectrum Disorder (ASDEAGLENCT07891065
EEG As a Genetic Selection Lever in Autism Spectrum Disorder
An observational study of Autism Spectrum Disorder (ASD, run by Centre Hospitalier Régional Metz-Thionville at 2 sites in France.
Trial summary
Autism Spectrum Disorder (ASD) is a growing public health concern, with genetic causes identified in about 20% of cases. While exome/genome sequencing is powerful, its cost and limited yield call for better patient selection. Read more about this study
- Who is it for?
- Ages 12 months to 17 years
- Conditions the study is for
- Autism Spectrum Disorder (ASD
- What is being tested?
- Collection of routine care data
- How many people
- 80 participants
- Where
- 2 sitesFrance
- Study dates
- Sep 2026to Feb 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 12 months to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: - children with ASD who underwent both: * exome sequencing, * and a sleep EEG.
Who may be able to join
- Age < 18 years
- Children with ASD
- Having undergone exome sequencing
- Having undergone a sleep EEG
Who cannot join
- Children whose legal representative has objected to the reuse of their data
- Presenting with another previously identified cause that may explain the ASD (toxic, infectious, perinatal distress)
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites
Cabinet de Neurologie Pédiatrique
Le Ban Saint-Martin, 57050
Dr Claire BILBAULT, MD, 003387553435, claire.bilbault@chr-metz-thionville.fr
Dr Claire BILBAULT, MD
CHR Metz-Thionville Hopital Femme Mere Enfant
Metz, 57085
Mélanie JUNKE, projet-recherche-clinique@chr-metz-thionville.fr
Claire BILBAULT, MD
About this study
Official title: Electroencephalography in Autism Spectrum Disorder: A Potential Aid in the Selection of Candidates for Extended Genetic Testing
Autism Spectrum Disorder (ASD) is a growing public health concern, with genetic causes identified in about 20% of cases. While exome/genome sequencing is powerful, its cost and limited yield call for better patient selection.
Electroencephalography (EEG) shows promise: early EEG patterns can predict ASD, and specific EEG features may help identify subgroups more likely to have a genetic cause. This project explores using EEG to optimize genetic testing strategies in ASD.
Read the detailed description
Autism Spectrum Disorder (ASD) is a major public health challenge due to its rising global prevalence. Genetic factors account for about 20% of isolated ASD cases, with higher yields in syndromic forms. While exome and genome sequencing are gold-standard diagnostic tools, their high cost and limited diagnostic yield necessitate better patient selection strategies.
Electroencephalography (EEG) emerges as a promising complementary tool: early EEG profiles (as early as 3-10 months) can predict later ASD diagnosis, and EEG biomarkers (frequency bands, connectivity, etc.) help stratify ASD populations and assess severity. EEG abnormalities are also linked to more severe clinical profiles and higher epilepsy risk, suggesting distinct neurodevelopmental subgroups.
The core hypothesis is that specific EEG features (paroxysmal anomalies, sleep architecture disruption, etc.) may correlate with a higher likelihood of identifying a genetic cause via exome sequencing, thus optimizing diagnostic pathways.
The main objective of the study is to compare the EEG characteristics of patients with ASD between those with a 'positive' exome and those with a 'negative' exome. An exome will be considered positive if classified as pathogenic (class 5) or likely pathogenic (class 4) according to the recommendations of the ACMG (American College of Medical Genetics and Genomics).
The secondary objectives are:
- To describe sleep EEG profiles in children with ASD and investigate possible associations with clinical, developmental and morphological characteristics.
- To explore the impact of early environmental factors (screen exposure) on EEG characteristics.
- To describe the distribution of EEG abnormalities based on inconclusive genetic results (class 3, PIEV).
- Conditions
- Autism Spectrum Disorder (ASD
- Being tested
- Collection of routine care data
- Keywords
- Autism Spectrum Disorder (ASD), Electroencephalography, Exome, Genome
- 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.
Collection of routine care dataOther
Clinical, EEG and genetic data from the patient records of the children included will be collected
| Study group | Role | What they receive |
|---|---|---|
| Children diagnosed with autism spectrum disorder | Not described Receives: Other: Collection of routine care data |
What is being measured
The primary outcome is the main question the study is designed to answer.
EEG profil
The EEG characteristics will be described according to 3 categories: 1) spike-wave bursts (SWB) profile, 2) alteration of sleep spindles profile, 3) others profile.
This assessment will be conducted in a blinded manner by 3 pediatric neurologists. The analysis will focus on the first 10 minutes of sleep, using a standardized assessment grid.
Measured: At Baseline
Secondary outcomes (21)
Status of patient exome regarding ASD
Exome results classified as pathogenic (Class 5) or likely pathogenic (Class 4) according to the recommendations of the American College of Medical Genetics and Genomics (ACMG) will be considered "positive". Others will be considered "negative"
Measured: Baseline
Number of spike-wave bursts (SWB) on EEG
Measured: Baseline
Duration of spike-wave bursts (SWB) on EEG
In seconds
Measured: Baseline
Location of spike-wave bursts (SWB) on EEG
Classified as frontal, bifrontal, diffuse, or focal
Measured: At Baseline
Number of sleep spindles (SWB) on EEG
Measured: Baseline
Amplitude of sleep spindles (SWB) on EEG, rated on a 3-point scale
Measured: Baseline
Frequency of sleep spindles (SWB) on EEG
Classified as alpha or beta
Measured: Baseline
Duration of sleep spindles (SWB) on EEG
In seconds
Measured: Baseline
Spindle synchrony on EEG
Classified as synchronous or asynchronous
Measured: Baseline
Background rhythm in the awake state on EEG
Classified as alpha, theta, beta, or gamma
Measured: Baseline
Patient age
In years
Measured: Baseline
Patient gender
male/female
Measured: Baseline
Familial history of ASD
Yes/No
Measured: Baseline
Socio-economic status of the parents
Farmers /Artisans, Merchants, Business Owners / Managers and Professionals Intermediate Occupations / Office Workers / Manual Laborers
Measured: Baseline
Severity of ASD according to DSM V
Minor / moderate / major
Measured: Baseline
Nature of ASD
Regressive (Yes/No) or non-regressive (Yes/no)
Measured: Baseline
Presence or absent of associated signs
Facial dysmorphia (Yes/No), heart disease (Yes/No), limb abnormalities (Yes/No), epilepsy (Yes/No)
Measured: Baseline
Present or absent of neurological examination abnormalities
Cebellar syndrome (Yes/No), pyramidal syndrome (Yes/No), nystagmus (Yes/No), abnormal ROT (Yes/No), strabismus (Yes/No)
Measured: Baseline
Degree of language delay
None, light, moderate, severe
Measured: Baseline
Degree of cognitive impairment
None, light, moderate, severe
Measured: Baseline
Screen exposure between 6 and 18 months
Average number of hours per day
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Oct 2026
- Study startSep 2026 (estimated)
- Primary completionFeb 2027 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autism Spectrum Disorder (ASDStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Régional Metz-Thionville
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Claire BILBAULT, MD, Principal investigator, CHR Metz-Thionville Hopital Femme Mere Enfant
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07891065
- Sponsor's protocol ID
- 2025-07-Obs-CHRMT
- Acronym
- EAGLE
- Status last verified
- Sep 2026
- First submitted
- 29 Sep 2026
- Last updated
- 23 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: According to the French law and the French Data Protection Authority (CNIL), we won't be able to publicly share individual participant data, but we plan to share their conclusions through peer-reviewed publications and conferences.
Study at a glance
From the registry record, last updated by the sponsor on 23 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Electroencephalography in Autism Spectrum Disorder: A Potential Aid in the Selection of Candidates for Extended Genetic Testing
- ClinicalTrials.gov ID
- NCT07891065
- Acronym / sponsor ID
- EAGLE / 2025-07-Obs-CHRMT
- Conditions
- Autism Spectrum Disorder (ASD
- Keywords
- Autism Spectrum Disorder (ASD), Electroencephalography, Exome, Genome
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Centre Hospitalier Régional Metz-ThionvilleUniversity, hospital or other
- Study start
- Sep 2026 (estimated)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 23 Oct 2026 (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.
Autism Spectrum Disorder (ASD) is a growing public health concern, with genetic causes identified in about 20% of cases. While exome/genome sequencing is powerful, its cost and limited yield call for better patient selection.
Electroencephalography (EEG) shows promise: early EEG patterns can predict ASD, and specific EEG features may help identify subgroups more likely to have a genetic cause. This project explores using EEG to optimize genetic testing strategies in ASD.
Detailed description
Autism Spectrum Disorder (ASD) is a major public health challenge due to its rising global prevalence. Genetic factors account for about 20% of isolated ASD cases, with higher yields in syndromic forms. While exome and genome sequencing are gold-standard diagnostic tools, their high cost and limited diagnostic yield necessitate better patient selection strategies.
Electroencephalography (EEG) emerges as a promising complementary tool: early EEG profiles (as early as 3-10 months) can predict later ASD diagnosis, and EEG biomarkers (frequency bands, connectivity, etc.) help stratify ASD populations and assess severity. EEG abnormalities are also linked to more severe clinical profiles and higher epilepsy risk, suggesting distinct neurodevelopmental subgroups.
The core hypothesis is that specific EEG features (paroxysmal anomalies, sleep architecture disruption, etc.) may correlate with a higher likelihood of identifying a genetic cause via exome sequencing, thus optimizing diagnostic pathways.
The main objective of the study is to compare the EEG characteristics of patients with ASD between those with a 'positive' exome and those with a 'negative' exome. An exome will be considered positive if classified as pathogenic (class 5) or likely pathogenic (class 4) according to the recommendations of the ACMG (American College of Medical Genetics and Genomics).
The secondary objectives are:
- To describe sleep EEG profiles in children with ASD and investigate possible associations with clinical, developmental and morphological characteristics.
- To explore the impact of early environmental factors (screen exposure) on EEG characteristics.
- To describe the distribution of EEG abnormalities based on inconclusive genetic results (class 3, PIEV).
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children diagnosed with autism spectrum disorder | – | Other: Collection of routine care data |
Who may qualify
- Ages
- 12 months to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- - children with ASD who underwent both: * exome sequencing, * and a sleep EEG.
Key inclusion criteria (4 listed)
- Age < 18 years
- Children with ASD
- Having undergone exome sequencing
- Having undergone a sleep EEG
Key exclusion criteria (2 listed)
- Children whose legal representative has objected to the reuse of their data
- Presenting with another previously identified cause that may explain the ASD (toxic, infectious, perinatal distress)
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 |
|---|---|---|
| Collection of routine care dataClinical, EEG and genetic data from the patient records of the children included will be collected | Other | Children diagnosed with autism spectrum disorder |
Primary outcome
EEG profil
Time frame: At Baseline
The EEG characteristics will be described according to 3 categories: 1) spike-wave bursts (SWB) profile, 2) alteration of sleep spindles profile, 3) others profile. This assessment will be conducted in a blinded manner by 3 pediatric neurologists. The analysis will focus on the first 10 minutes of sleep, using a standardized assessment grid.
21 secondary outcomes
Status of patient exome regarding ASD
Time frame: Baseline
Number of spike-wave bursts (SWB) on EEG
Time frame: Baseline
Duration of spike-wave bursts (SWB) on EEG
Time frame: Baseline
Location of spike-wave bursts (SWB) on EEG
Time frame: At Baseline
Number of sleep spindles (SWB) on EEG
Time frame: Baseline
Amplitude of sleep spindles (SWB) on EEG, rated on a 3-point scale
Time frame: Baseline
Frequency of sleep spindles (SWB) on EEG
Time frame: Baseline
Duration of sleep spindles (SWB) on EEG
Time frame: Baseline
Spindle synchrony on EEG
Time frame: Baseline
Background rhythm in the awake state on EEG
Time frame: Baseline
Patient age
Time frame: Baseline
Patient gender
Time frame: Baseline
Familial history of ASD
Time frame: Baseline
Socio-economic status of the parents
Time frame: Baseline
Severity of ASD according to DSM V
Time frame: Baseline
Nature of ASD
Time frame: Baseline
Presence or absent of associated signs
Time frame: Baseline
Present or absent of neurological examination abnormalities
Time frame: Baseline
Degree of language delay
Time frame: Baseline
Degree of cognitive impairment
Time frame: Baseline
Screen exposure between 6 and 18 months
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Oct 2026.
- Individual participant dataSharing planned: No. According to the French law and the French Data Protection Authority (CNIL), we won't be able to publicly share individual participant data, but we plan to share their conclusions through peer-reviewed publications and conferences.
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.
Claire BILBAULT, MD principal investigator
CHR Metz-Thionville Hopital Femme Mere Enfant
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autism Spectrum Disorder (ASD, run by Centre Hospitalier Régional Metz-Thionville at 2 sites 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 4 inclusion and 2 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: opening soon, as of the sponsor's last update on 23 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mélanie JUNKE (0033387179886, projet-recherche-clinique@chr-metz-thionville.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
EEG profil (time frame: At Baseline). 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 23 Oct 2026.