A Natural History Study of Angelman Syndrome

Recruiting Observational Study
Angelman Syndrome
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
1 and older
Sex
Any
Study type
Observational
Participants needed
40 (estimated)
Sponsor
Massachusetts General Hospital · Other
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About This Trial
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 activi…
Trial Locations
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Eligibility Criteria
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 disab…
Contacts

Caleb Weinstock

781-860-1711

MGHGLOW-AS@mgb.org

CONTACT

Leena Phan

781-860-1711

MGHGLOW-AS@mgb.org

CONTACT