Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-02-25

Study Completion Date

2026-02-28

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Natural History Study for Patients With Angelman Syndrome

NCT06229769

Angelman Syndrome

RECRUITING

EEG in Children With Unilateral Cerebral Injury During Action and Action Observation(AOE)

NCT02597374

Cerebral Palsy Child

UNKNOWN NA

Study of the Prevalence of Autistic Traits in Angelman Syndrome

NCT06337383

Angelman Syndrome

RECRUITING

Facial Expression Recognition of Emotion and Categorization of Emotional Words in Gilles de la Tourette's Syndrome

NCT00664300

Gilles de la Tourette's Syndrome

COMPLETED

Study on the Brain Network of Angelman Syndrome

NCT03358823

Angelman Syndrome

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Angelman Syndrome

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients

Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman.

No interventions assigned to this group

Controls

Healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology.

No interventions assigned to this group

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Eye tracking

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.

Intervention Type OTHER

Data collection from patients' medical files

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.

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* 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.