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| ID | Type | Description | Link |
|---|---|---|---|
| 2024-A02021-46 | Other Identifier | ID RCB number |
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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman. |
| |
| Controls | Healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Eye tracking | Other | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Time 0 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Time 0 |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Nathalie MD, PhD Boddaert | Contact | 0033171396530 | nathalie.boddaert@aphp.fr | |
| Victor Bruyere | Contact | 0033134292324 | victor.bruyere@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Nathalie MD, PhD Boddaert | Assistance Publique - Hôpitaux de Paris | Study Director |
| Monica MD Zilbovicius | Assistance Publique - Hôpitaux de Paris | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Necker-Enfants Malades | Recruiting | Paris | 75015 | France |
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| ID | Term |
|---|---|
| D017204 | Angelman Syndrome |
| ID | Term |
|---|---|
| D009069 | Movement Disorders |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
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| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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| Data collection from patients' medical files | Other | Data collection from patients' medical files:
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| questionnaires | Other | 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. |
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| 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. | 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; | 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. | Time 0 |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |