A Natural History Study of Angelman Syndrome
ConditionAngelman Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1+
SponsorMassachusetts General Hospital
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 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).
Eligibility criteria
Qualifiers
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 disability) are permitted; however, Angelman syndrome must be the primary clinical diagnosis.
The participant is male or female (assigned sex at birth) and aged ≥1 year at the initial study visit.
The participant has a study partner who meets the study partner criteria below.
The participant, if unable to provide informed consent, has an appropriate surrogate who is at least 18 years of age and willing and able to provide informed consent on behalf of the participant in accordance with current International Council for Harmonisation (ICH) guidelines and applicable institutional regulations.
Disqualifiers
The participant has at least one additional known genetic abnormality outside the human 15q11.2-q13.3 locus causing a probable or known developmental disability.
At least one standard-of-care treatment (medication or adjunctive therapy) used by the participant was changed during the 28 days (4 weeks) prior to the first study visit. Treatments include, but are not limited to, doses of anti-epileptic medications, behavioral management medications, sleep medications, gabapentin, cannabidiol, special diets, supplements, speech therapy, occupational therapy, applied behavioral analysis (ABA), psychosocial interventions, physical therapy, or nutritional support.
The participant has unstable epilepsy, defined as having an emergency department visit or hospitalization for seizure-related concerns within the 28 days (4 weeks) preceding the initial study visit.
The participant is of childbearing potential and is either pregnant, breastfeeding, or not using an adequate method of contraception; abstinence is acceptable.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
40 Participants
are grouped into 3 trial groupsSponsors and collaborators
Massachusetts General Hospital
Lead sponsor
Astellas Pharma Global Development, Inc.
Collaborator
Source ClinicalTrials.gov