A Longitudinal Natural History Study of Adults and Children With Angelman Syndrome
Massachusetts General Hospital
Summary
The goal of this observational study is to learn about the natural progression of Angelman syndrome (AS) in children and adults with a confirmed genetic diagnosis of AS. The main questions it aims to answer are: * How do developmental skills, such as communication, motor abilities, and adaptive behaviors, change over a 1-year period in people with AS? * Are there specific patterns in brain activity or sleep that are associated with changes in AS symptoms over time? Participants will: * Visit the study site 5 times over 1 year (approximately every 3 months) for assessments. * Complete tests and questionnaires about development, behaviors, and sleep with the help of their caregivers. * Undergo electroencephalograms (EEGs) to measure brain activity and wear a sleep-monitoring device at home (to collect actigraphy data).
Description
* Longitudinal, natural history study of 40 individuals with AS, enriched for an adolescent population. * Seeks to establish normative data to inform future design and interpretation of clinical trials for AS and to support the development of more precise diagnostic tools and targeted therapeutic interventions for AS. * Track adaptive behavior, communication, challenging behaviors, general health, overall disease severity, and common co-occurring conditions (including epilepsy and sleep disturbances) through standardized assessments. * Biomarker data collected through EEGs and actigraphy recor…
Eligibility
- Age range
- 1+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * The participant has a primary clinical diagnosis of Angelman syndrome with documented genetic variation(s) affecting the function of the UBE3A gene within the human 15q11.2-q13.3 locus. Co-occurring conditions (e.g., autism spectrum disorder, cerebral palsy, intellectual disability) are permitted; however, Angelman syndrome must be the primary clinical diagnosis. * The participant is male or female (assigned sex at birth) and aged ≥1 year at the initial study visit. * The participant has a study partner who meets the study partner criteria below. * The participant, if un…
Location
- MGH Lurie Center for AutismLexington, Massachusetts