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.
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