ClinicalTrials.gov record NCT04507997

Angelman Syndrome Natural History Study

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Aug 22, 2026

Angelman Syndrome Natural History Study

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationCanada, United States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A prospective observational study that follows people with a molecular diagnosis of Angelman syndrome. Participants have clinician-observed and parent-reported assessments of medical history, development, and communication over time (primary outcomes measured through about 1 year on average). The study aims to create Angelman-specific norms for outcome measures to support future clinical trials.

What it is studying. How Angelman syndrome progresses over time and what the typical scores are on commonly used developmental and communication outcome measures.

What the researchers hope to learn. To increase understanding of the long-term natural history of Angelman syndrome and to develop Angelman-specific norms for outcome measures that can be used in future clinical trials and care planning.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Molecular diagnosis of Angelman syndrome

Exclusion criteria

  • Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

The overall goal is to increase our understanding of the long-term natural history of Angelman syndrome and obtain Angelman-specific norms for outcome measures that can be used in clinical trials, ultimately improving the care of individuals with Angelman syndrome.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give medical history information and take part in clinician-observed and parent-reported assessments of development, adaptive behavior, and communication (examples listed in the record include Vineland, Bayley, and ORCA measures). Assessments are collected over time in a prospective, longitudinal follow-up (primary outcomes listed through study completion, an average of 1 year). The registry record does not list invasive procedures; main activities are medical-history review, standardized developmental tests, and questionnaires completed by caregivers.

How the study is structured. A prospective cohort observational study. People with a molecular diagnosis of Angelman syndrome are assessed by clinicians and parents using measures such as medical history review, the Vineland Adaptive Behavior Scales, the Bayley Scales (for infants/toddlers), and the Observer-Reported Communication Ability (ORCA). Data are collected over time (primary outcomes listed through study completion, an average of 1 year).

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Canada, United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Angelman syndrome

Clinical trials11 trials listed for Angelman syndromeEvery trial the registry lists for Angelman syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Angelman syndrome researchLatest monthly update: September 2026. Includes: Seizure frequency. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Aug 1, 2018
Primary completion
April 2031 (estimated)
Study completion
April 2031 (estimated)
Target enrollment
300 participants (estimated)
Last updated on registry
Apr 3, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Boston Children's Hospital
Principal investigator
Wen-Hann Tan, Attending Physician in Genetics
Boston Children's Hospital
Collaborators
  • University of California, San Diego
  • Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)
  • Food and Drug Administration (FDA)
  • Angelman Syndrome Foundation Canada
  • Foundation for Angelman Syndrome Therapeutics Canada
  • Foundation for Angelman Syndrome Therapeutics
  • Angelman Syndrome Foundation, Inc.

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (11)

Terms used on this page · explanations by MedicalUpdates.ai

natural history study
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
outcome measures
Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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