Angelman SyndromeEYEANGELNCT06737718
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
An observational study of Angelman Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and… Read more about this study
- Who is it for?
- Ages 3 to 17 years
- Conditions the study is for
- Angelman Syndrome
- What is being tested?
- Eye tracking, Data collection from patients' medical files and questionnaires
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 25 Feb 2025to 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 3 to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman and healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology.
Who may be able to join
- 40 children with Angelman syndrome diagnosed by genetic assessment or EEG.
- 20 healthy volunteer control children with no known genetic or psychiatric neurological pathology.
- Aged between 3 - 17 years.
- Male or female.
- Holders of parental authority and minors informed and not opposed to participation in the research.
Who cannot join
- Refusal to participate in the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Necker-Enfants Malades
Paris, 75015
Nathalie MD, PhD Boddaert, 00331171396530, nathalie.boddaert@aphp.fr
Nadia MD, PhD Bahi-Buisson, 0033142192661, nadia.bahi-buisson@aphp.fr
About this study
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments.
While basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials.
Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.
Read the detailed description
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 children - approximately 500,000 people worldwide. It is a significant neurodevelopmental disorder. It is characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance and sensory disorders. Individuals with Angelman syndrome have specific behavioral characteristics, including happy behavior, characterized by laughter, smiling and frequent excitability.
The landscape of treatment research for Angelman syndrome has changed significantly over the past 10 years with more and more players getting involved. Different gene therapy avenues are in advanced research phases and some treatments for downstream therapies and gene activation of the paternal allele have already been in clinical trials for more than 3 years.
As basic research and clinical trials progress, the scientific community is still looking for key biomarkers to assess significant improvements in individuals participating in clinical trials.
Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, and this has also been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavior disorders in individuals with Angelman syndrome.
Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify social perception abnormalities in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.
- Conditions
- Angelman Syndrome
- Being tested
- Eye tracking, Data collection from patients' medical files, questionnaires
- Keywords
- Angelman syndrome, Eye tracking, Social perception
- Medical subject headings
- Angelman Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Eye trackingOther
The eye-tracking session will take place in the Pediatric Radiology department of Necker Hospital. The child will be seated in front of a computer screen. Films and images with social and/or non-social content will be shown to the children. The session will be unique, will last approximately 15 minutes and will not involve any constraints for the child.
Eye tracking allows to measure where and how a person looks. An infrared light is emitted towards the subject's eye. It is reflected there and a camera records the reflections generated, allowing a real-time calculation of the position of the gaze. The technique is harmless and non-invasive.
Data collection from patients' medical filesOther
Data collection from patients' medical files:
- Brain imaging data if this examination was carried out as part of the patient's care,
- Angelman syndrome genotypes.
questionnairesOther
Completion of two questionnaires by parents, the DIVA-5 ID to assess the level of attention difficulties and the M-CHAT questionnaire to measure the level of social difficulties in children. The purpose of these two scales is to better interpret the eye-tracking results.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman. Receives: Other: Eye tracking; Other: Data collection from patients' medical files; Other: questionnaires | |
| Controls | Healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology. Receives: Other: Eye tracking |
What is being measured
The primary outcome is the main question the study is designed to answer.
Abnormalities of social perception in children with Angelman syndrome
Social perception abnormalities in children with Angelman syndrome will be studied using eye tracking.
Social perception will be measured during the eye-tracking test by the number of fixations in social and non-social regions.
Measured: Time 0
Secondary outcomes (4)
Description of brain abnormalities in children with Angelman syndrome
Description of measurements from anatomical and functional brain imaging data (radiological analysis, grey matter analysis, white matter analysis, resting cerebral blood flow analysis) available in children with Angelman syndrome participating in the study and who previously have undergone a MRI as part of their routine care.
Measured: Time 0
Correlation measures between eye-tracking data and multimodal brain imaging data
Description of correlations of eye tracking data and multimodal brain imaging data (anatomical and functional) from children with Angelman syndrome participating in the study for whom brain imaging data has already been acquired as part of the child's routine care.
Measured: Time 0
Description of potential correlations between eye-tracking data and different genotypes of Angelman syndrome
Investigate potential correlations measurements between eye-tracking data and different genotypes of Angelman syndrome: Deletion, Mutation, IPD, Uniparental disomy, others;
Measured: Time 0
Description of potential link between eye-tracking and brain imaging data of children with Angelman syndrome to the overall eye-tracking results of children with autism spectrum disorders
Comparison of eye-tracking and brain imaging data obtained in children with Angelman syndrome and the same data from children with autism spectrum disorders, available in the laboratory database.
Measured: Time 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2024
- Study start25 Feb 2025
- 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 Angelman SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Nathalie MD, PhD Boddaert, Study director, Assistance Publique - Hôpitaux de ParisMonica MD Zilbovicius, Study director, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06737718
- Sponsor's protocol ID
- APHP241267
- Other IDs
- 2024-A02021-46
- Acronym
- EYEANGEL
- Status last verified
- Mar 2026
- First submitted
- 12 Dec 2024
- Last updated
- 16 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
- ClinicalTrials.gov ID
- NCT06737718
- Acronym / sponsor ID
- EYEANGEL / APHP241267
- Conditions
- Angelman Syndrome
- Keywords
- Angelman syndrome, Eye tracking, Social perception
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 25 Feb 2025 (actual)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 17 Dec 2024 (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.
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments.
While basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials.
Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.
Detailed description
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 children - approximately 500,000 people worldwide. It is a significant neurodevelopmental disorder. It is characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance and sensory disorders. Individuals with Angelman syndrome have specific behavioral characteristics, including happy behavior, characterized by laughter, smiling and frequent excitability.
The landscape of treatment research for Angelman syndrome has changed significantly over the past 10 years with more and more players getting involved. Different gene therapy avenues are in advanced research phases and some treatments for downstream therapies and gene activation of the paternal allele have already been in clinical trials for more than 3 years.
As basic research and clinical trials progress, the scientific community is still looking for key biomarkers to assess significant improvements in individuals participating in clinical trials.
Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, and this has also been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavior disorders in individuals with Angelman syndrome.
Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify social perception abnormalities in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Other: Eye tracking, Other: Data collection from patients' medical files, Other: questionnairesChildren with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman. |
| Controls | – | Other: Eye trackingHealthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology. |
Who may qualify
- Ages
- 3 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman and healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology.
Key inclusion criteria (5 listed)
- 40 children with Angelman syndrome diagnosed by genetic assessment or EEG.
- 20 healthy volunteer control children with no known genetic or psychiatric neurological pathology.
- Aged between 3 - 17 years.
- Male or female.
- Holders of parental authority and minors informed and not opposed to participation in the research.
Key exclusion criteria (1 listed)
- Refusal to participate in the study.
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 |
|---|---|---|
| Eye trackingThe eye-tracking session will take place in the Pediatric Radiology department of Necker Hospital. The child will be seated in front of a computer screen. Films and images with social and/or non-social content will be shown to the children. The session will be unique, will last approximately 15 minutes and will not involve any constraints for the child. Eye tracking allows to measure where and how a person looks. An infrared light is emitted towards the subject's eye. It is reflected there and a camera records the reflections generated, allowing a real-time calculation of the position of the gaze. The technique is harmless and non-invasive. | Other | Controls, Patients |
| Data collection from patients' medical filesData collection from patients' medical files: * Brain imaging data if this examination was carried out as part of the patient's care, * Angelman syndrome genotypes. | Other | Patients |
| questionnairesCompletion of two questionnaires by parents, the DIVA-5 ID to assess the level of attention difficulties and the M-CHAT questionnaire to measure the level of social difficulties in children. The purpose of these two scales is to better interpret the eye-tracking results. | Other | Patients |
Primary outcome
Abnormalities of social perception in children with Angelman syndrome
Time frame: Time 0
Social perception abnormalities in children with Angelman syndrome will be studied using eye tracking. Social perception will be measured during the eye-tracking test by the number of fixations in social and non-social regions.
4 secondary outcomes
Description of brain abnormalities in children with Angelman syndrome
Time frame: Time 0
Correlation measures between eye-tracking data and multimodal brain imaging data
Time frame: Time 0
Description of potential correlations between eye-tracking data and different genotypes of Angelman syndrome
Time frame: Time 0
Description of potential link between eye-tracking and brain imaging data of children with Angelman syndrome to the overall eye-tracking results of children with autism spectrum disorders
Time frame: Time 0
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 16 Mar 2026.
- Individual participant dataSharing planned: No
Related trials for Angelman Syndrome
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BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Angelman Syndrome
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CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS)
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RecruitingObservational study
A Natural History Study of Angelman Syndrome
Angelman Syndrome, Neurodevelopmental Conditions
Active, not recruitingPhase 3
REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
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Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
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.
Nathalie MD, PhD Boddaert study director
Assistance Publique - Hôpitaux de Paris
Monica MD Zilbovicius study director
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome, run by Assistance Publique - Hôpitaux de Paris 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 5 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 16 Mar 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?
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 Nathalie MD, PhD Boddaert (0033171396530, nathalie.boddaert@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Abnormalities of social perception in children with Angelman syndrome (time frame: Time 0). 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 16 Mar 2026.