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

Not yet recruiting

• Conditions: Angelman Syndrome

• Registration Number: NCT06737718
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief 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 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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Status Verified: 2024-12
• Study First Submitted: 2024-12-12
• Study First Submitted QC: 2024-12-12
• Last Update Submitted: 2024-12-12
• Study First Posted: 2024-12-17
• Last Update Posted: 2024-12-17
• Study Start: 2025-01
• Primary Completion: 2026-01
• Study Completion: 2026-01

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 60

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.

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Exclusion Criteria

• Refusal to participate in the study.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Abnormalities of social perception in children with Angelman syndrome	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.

Secondary Outcome Measures

Name	Time	Method
Description of brain abnormalities in children with Angelman syndrome	Time 0	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.
Correlation measures between eye-tracking data and multimodal brain imaging data	Time 0	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.
Description of potential correlations between eye-tracking data and different genotypes of Angelman syndrome	Time 0	Investigate potential correlations measurements between eye-tracking data and different genotypes of Angelman syndrome: Deletion, Mutation, IPD, Uniparental disomy, others;
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 0	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.

Trial Locations

Locations (1)

Hôpital Necker-Enfants Malades; 🇫🇷 Paris, France