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Natural History Study of Angelman Syndrome

This observational study aims to understand how Angelman syndrome (AS) progresses naturally in children and adults with a confirmed genetic diagnosis. Researchers want to see how developmental skills like communication, movement, and daily living abilities change over one year. They also hope to find patterns in brain activity or sleep that are connected to changes in AS symptoms. You could be eligible if you have a primary clinical diagnosis of Angelman syndrome with a documented genetic change in the UBE3A gene. The study will measure changes in cognitive (thinking), receptive communication (understanding), and expressive communication (speaking) skills using a special test called the Bayley Scale of Infant Development, Fourth Edition, over 12 months. This study is currently unclear on its recruitment status and plans to enroll 40 participants.

Study design
This is an observational study of 40 individuals with Angelman Syndrome. It is designed to track changes over time without any specific intervention.
What's involved
You would visit the study site 5 times over one year (approximately every 3 months) for assessments. These visits will involve tests and questionnaires about development, behaviors, and sleep.
Compensation
Not stated in the trial record.
Follow-up
Participants will be assessed over a 12-month period, with the final measurements taken at 12 months.

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NCT07417137

A Natural History Study of Angelman Syndrome

Recruiting
Not specifiedAges 1+Observational
Massachusetts General Hospital
~40 participants
Updated 2026-08-21 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 Months
Measured over Week 0, Week 26, Week 52
+4 more outcomes measured

Conditions

Angelman Syndrome
Neurodevelopmental Conditions

Explore related trials

Angelman SyndromeUbiquitin-Protein Ligase E3A

Where it's being run

1 sites across 1 states
Massachusetts1

Study leadership

  • Christopher J Keary, MD · PRINCIPAL_INVESTIGATOR · Massachusetts General Hospital

Who to contact

Riley Shubb
[email protected]
781-860-1711
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.
The study partner is a parent or primary caregiver who is at least 18 years of age.
The study partner has consistent contact with the participant and, in the opinion of the investigator, is sufficiently knowledgeable about the participant's ongoing condition to provide accurate and current information.
The study partner has sufficient English-language proficiency to complete study partner assessments.
The study partner is willing and able to provide informed consent on their own behalf in accordance with ICH guidelines and applicable institutional regulations.
The study partner is, in the opinion of the investigator, reliable and competent; willing and able to accompany the participant to all study visits and comply with study procedures; reachable by telephone or email as needed; and sufficiently knowledgeable about the participant's ongoing condition(s) to provide accurate and current information regarding the participant's health and well-being.

Exclusion

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.
The participant has a clinically relevant history of malignancy; clinically significant abnormal test results; clinically significant cardiovascular, hematologic, hepatic, muscular, neurologic, or renal disease; or has experienced other clinical events which, in the opinion of the investigator, render participation unsuitable.
The participant has a lifetime history of treatment with any cell- or gene-based therapy, including antisense oligonucleotides or gene-editing therapies.
The participant has received any investigational therapy other than a cell- or gene-based therapy within 28 days or 5 half-lives (whichever is longer) preceding the initial study visit.
The participant is currently enrolled or plans to enroll in an interventional study involving an investigational agent or device during the planned observation period.
The participant has a known contraindication to electroencephalography, actigraphy, or any other study procedure described in the schedule of assessments.
The participant or study partner is, in the opinion of the investigator, unsuitable for participation in any other way, including an inability to fulfill study requirements.

What this trial measures

  • Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Cognitive Growth Score Equivalent at 12 MonthsWeek 0, Week 26, Week 52

    The Bayley-4 Cognitive subscale assesses cognitive development in children. Growth score equivalents are derived from developmental growth scale values (GSVs) that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate greater cognitive development.

  • Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Receptive Communication Growth Score Equivalent at 12 MonthsWeek 0, Week 26, Week 52

    The Bayley-4 Receptive Communication subscale assesses receptive language skills. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more advanced receptive communication abilities.

  • Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Expressive Communication Growth Score Equivalent at 12 MonthsWeek 0, Week 26, Week 52

    The Bayley-4 Expressive Communication subscale assesses expressive language skills. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more developed expressive communication abilities.

  • Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Fine Motor Growth Score Equivalent at 12 MonthsWeek 0, Week 26, Week 52

    The Bayley-4 Fine Motor subscale assesses fine motor skill development. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more developed fine motor skills.

  • Change from Baseline in Bayley Scale of Infant Development, Fourth Edition (Bayley-4) Gross Motor Growth Score Equivalent at 12 MonthsWeek 0, Week 26, Week 52

    The Bayley-4 Gross Motor subscale assesses gross motor skill development. Growth score equivalents are derived from developmental GSVs that provide an equal-interval scale for measuring developmental change over time. Higher scores indicate more developed gross motor skills.