A Natural History Study of Angelman Syndrome

Part of paid clinical trials in Lexington, Massachusetts.

Sponsor
Massachusetts General Hospital
Study ID
NCT07417137
Status
Recruiting
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Conditions

  • Angelman Syndrome
  • Neurodevelopmental Conditions

Eligibility Criteria

Sex
ALL
Age
1 Year - N/A
Healthy Volunteers
Not accepted

Study Details

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: * Attend 3 in-person and 2 virtual study visits over 1 year 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).

Key Dates

First listed
Feb 18, 2026
Start date
Aug 31, 2026
Status verified
Aug 2026
Primary completion
Sep 30, 2028
Completion
Sep 30, 2029

Study Design

Enrollment
40 participants (estimated)

Arms

  • Arm: Participants aged 1-17 years (inclusive)
    * Cohort 1: Participants aged at least 1 year old and less than 18 years old at the time of enrollment with genetically confirmed AS. * This cohort serves as the broad group for assessing the natural history of AS across childhood and adolescence.
  • Arm: Participants aged 1-12 years (inclusive)
    * Cohort 2: Participants aged at least 1 year old and younger than 13 years old at the time of enrollment with genetically confirmed AS. * A subset of Cohort 1, specifically focused on preadolescents. * This cohort aims to capture developmental milestones and changes during a critical period of growth where potential therapeutic interventions may have the most significant impact. * Participants aged 1-12 years will first be assigned to Cohort 2 until its capacity is reached. Once Cohort 2 is full, participants aged 1-12 years will be enrolled in Cohort 1 only.
  • Arm: Participants aged 18 years and older
    * Cohort 3: Participants aged at least 18 years old. * This cohort is limited to up to 5 participants to explore the natural history of AS in adults, though it is not the primary focus of this study.

Primary Outcome Measure

Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 Months [ Time Frame: Week 0, Week 26, Week 52 ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
MGH Lurie Center for AutismLexingtonMassachusetts02421
Riley Shubb
[email protected]
781-860-1711
Leena Phan
[email protected]
781-860-1711
Christopher J Keary, MD (PRINCIPAL_INVESTIGATOR)
Ronald L Thibert, DO, MSPH (SUB_INVESTIGATOR)

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By research site
MGH Lurie Center for Autism· Lexington, MA

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