Actively Recruiting
A Longitudinal Natural History Study of Adults and Children With Angelman Syndrome
Led by Massachusetts General Hospital · Updated on 2026-05-18
40
Participants Needed
1
Research Sites
52 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
Researchers are conducting an observational study to understand how Angelman syndrome (AS) progresses naturally in children and adults who have a confirmed genetic diagnosis. The study focuses on changes in developmental skills like communication, motor abilities, and adaptive behaviors over one year. It also explores specific brain activity and sleep patterns that may be linked to changes in AS symptoms. This study aims to gather important data that can help improve future clinical trials and develop better diagnostic tools and treatments for AS. Participants will attend up to five visits over 12 months, approximately every three months, where they will undergo various assessments. These include standardized tests and questionnaires about their development, behaviors, and sleep, with caregiver assistance. Participants will have electroencephalograms (EEGs) to record brain activity and wear a sleep-monitoring device at home to collect actigraphy data. The study includes three cohorts based on age: children and adolescents aged 1 to 17, a focused group of children aged 1 to 12, and a small adult group aged 18 and older. Throughout the study, participants will complete developmental and behavioral assessments at baseline and every three months to measure changes in cognitive, communication, motor, and adaptive behavior skills. Researchers will also track common co-occurring conditions such as epilepsy and sleep problems. Data from EEGs, actigraphy, and questionnaires will be analyzed to understand age-related changes and symptom patterns. The total participation time is one year, with regular monitoring and evaluations to capture the natural history of AS.
CONDITIONS
Brief Title
A Natural History Study of Angelman Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female aged 1 year or older at the initial study visit
- Primary clinical diagnosis of Angelman syndrome with confirmed genetic variation affecting the UBE3A gene
- Participant has a study partner who is a parent or primary caregiver aged 18 or older
- Study partner has regular contact with the participant and can provide accurate information
- Study partner is willing and able to provide informed consent and comply with study procedures
You will not qualify if you...
- Known additional genetic abnormalities causing developmental disability outside the Angelman syndrome region
- Changes in standard-of-care treatments within 28 days before the first visit
- Unstable epilepsy with emergency visits or hospitalization for seizures within 28 days prior to study
- Pregnancy, breastfeeding, or inadequate contraception in participants of childbearing potential
- History of malignancy or serious medical conditions considered unsuitable by the investigator
- Lifetime treatment with any cell- or gene-based therapy
- Use of investigational therapy other than cell- or gene-based therapy within 28 days or 5 half-lives before the first visit
- Current or planned enrollment in interventional studies with investigational agents or devices
- Contraindications to EEG, actigraphy, or other study procedures
- Investigator's opinion of unsuitability for participation or inability to meet study requirements
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 12 months
Participants are observed over 12 months to track adaptive behavior, communication, challenging behaviors, general health, and other clinical outcomes through standardized assessments and biomarker data collection.
Up to 5 in-person visits at Week 0, Week 13, Week 26, Week 39, and Week 52
Trial Site Locations
Total: 1 location
1
MGH Lurie Center for Autism
Lexington, Massachusetts, United States, 02421
Actively Recruiting
Research Team
C
Caleb Weinstock
L
Leena Phan
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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