Actively Recruiting
A Natural History Study of Angelman Syndrome
Led by Massachusetts General Hospital · Updated on 2026-04-20
40
Participants Needed
1
Research Sites
169 weeks
Total Duration
On this page
Sponsors
M
Massachusetts General Hospital
Lead Sponsor
A
Astellas Pharma Global Development, Inc.
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
A Natural History Study of Angelman Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant has a primary clinical diagnosis of Angelman syndrome with documented genetic variation affecting the UBE3A gene in the 15q11.2-q13.3 region
- Participant is male or female and is at least 1 year old at the first study visit
- Participant has a study partner who is a parent or primary caregiver at least 18 years old
- Study partner has regular contact with participant and sufficient knowledge of their condition
- Study partner is proficient in English and able to provide informed consent
- Study partner is willing and able to attend all study visits and comply with study procedures
- Participant or their surrogate provides informed consent according to guidelines
You will not qualify if you...
- Participant has an additional known genetic abnormality outside the 15q11.2-q13.3 region causing developmental disability
- Participant changed any standard treatment or therapy within 28 days before the first visit
- Participant has unstable epilepsy with emergency or hospital visits for seizures within 28 days before the first visit
- Participant is of childbearing potential and is pregnant, breastfeeding, or not using effective contraception (abstinence allowed)
- Participant has significant medical conditions or history that make participation unsuitable
- Participant has received any cell- or gene-based therapy previously
- Participant has received investigational therapy other than cell- or gene-based therapy within 28 days or 5 half-lives before first visit
- Participant is enrolled or plans to enroll in another interventional study with investigational agents or devices during this study
- Participant has contraindications to EEG, actigraphy, or study procedures
- Participant or study partner is deemed unsuitable for participation by the investigator
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
MGH Lurie Center for Autism
Lexington, Massachusetts, United States, 02421
Actively Recruiting
Research Team
C
Colleen G Buckless
CONTACT
L
Leena Phan
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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