NCT07417137

A Natural History Study of Angelman Syndrome

A Longitudinal Natural History Study of Adults and Children With Angelman Syndrome

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 40 (estimated)
• Sponsor: Massachusetts General Hospital · Academic / Other
• Sex: All
• Age: 1 Year
• Healthy volunteers: Not accepted

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).

Detailed 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 recordings will be analyzed to assess age-related changes in clinical outcomes and neurophysiological measures. * Participants will attend up to 5 in-person study visits over the course of 12 months: Week 0, Week 13, Week 26, Week 39, Week 52.

Conditions

• Angelman Syndrome

Timeline

• Start date: 2026-03-01
• Primary completion: 2028-09-01
• Completion: 2029-09-01
• First posted: 2026-02-18
• Last updated: 2026-03-25

Locations

1 site across 1 country: United States