ClinicalTrials.gov record NCT06737718
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a prospective case-control observational study using eye tracking to study social perception in children aged 3–17 with Angelman syndrome and a group of healthy children. Participants take part in a single, non-invasive eye-tracking session (about 15 minutes); parents of affected children complete two questionnaires and researchers collect existing clinical data (genotype and any prior brain imaging) from records. The study compares eye-tracking measures between groups and explores links with brain imaging and genotype.
What it is studying. The study tests whether eye-tracking measurements can detect social perception abnormalities in children with Angelman syndrome. It also examines relationships between eye-tracking results and existing brain imaging, and whether eye-tracking patterns differ by Angelman genotype and when compared with data from children with autism spectrum disorder.
What the researchers hope to learn. To determine whether eye-tracking can identify social perception abnormalities in Angelman syndrome and could serve as a biomarker for future therapeutic studies; to describe brain imaging findings in participants with prior MRI; to explore correlations between eye-tracking, brain imaging, and genotype; and to compare results with existing autism spectrum disorder data.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Other
- Eye tracking
- Data collection from patients' medical files
- questionnaires
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Exclusion criteria
- Refusal to participate in the study.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Children take part in a single eye-tracking session of about 15 minutes, sitting in front of a computer screen while short films and images (social and non-social) are shown; eye tracking is non-invasive and harmless. For children with Angelman syndrome, the study team will collect existing medical-record information if available (including past brain MRI results and genotype). Parents will complete two questionnaires (DIVA-5 ID and M-CHAT) about attention and social difficulties to help interpret the eye-tracking data.
How the study is structured. Prospective, observational case-control study. Children view short films and images while a non-invasive eye-tracker records gaze during a single ~15-minute visit. For children with Angelman syndrome, researchers will collect existing medical information (genotype and prior MRI when available) and parents complete two questionnaires. Data analysis will compare the patient and control groups and look for correlations with imaging and genotype.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Angelman syndrome
Important dates
- Study start
- Feb 25, 2025
- Primary completion
- February 2027 (estimated)
- Study completion
- February 2027 (estimated)
- Target enrollment
- 60 participants (estimated)
- Last updated on registry
- Mar 16, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Nathalie MD, PhD Boddaert 📞 0033171396530 ✉ nathalie.boddaert@aphp.fr
- Victor Bruyere 📞 0033134292324 ✉ victor.bruyere@aphp.fr
Participating sites (1)
- Hôpital Necker-Enfants MaladesRecruiting
Paris, 75015 · France
- Nathalie MD, PhD Boddaert · 00331171396530 · nathalie.boddaert@aphp.fr
- Nadia MD, PhD Bahi-Buisson · 0033142192661 · nadia.bahi-buisson@aphp.fr
Terms used on this page · explanations by MedicalUpdates.ai
- biomarkers
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- healthy volunteer
- People who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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