A Natural History Study of Angelman Syndrome
NCT07417137 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 40
Last updated 2026-05-18
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).
Conditions
Sponsors & Collaborators
-
Astellas Pharma Global Development, Inc.
collaborator INDUSTRY -
Massachusetts General Hospital
lead OTHER
Principal Investigators
-
Christopher J Keary, MD · Massachusetts General Hospital
Eligibility
- Min Age
- 1 Year
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2026-06-30
- Primary Completion
- 2028-09-30
- Completion
- 2029-09-30
Countries
- United States
Study Locations
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