Angelman Syndrome Natural History Study

March 30, 2025 updated by: Wen-Hann Tan, Boston Children's Hospital
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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
    • Alberta
      • Calgary, Alberta, Canada
    • British Columbia
      • Vancouver, British Columbia, Canada
        • Recruiting
        • BC Children's Hospital
        • Principal Investigator:
          • Cyrus Boelman, MD
        • Contact:
    • Ontario
      • Ottawa, Ontario, Canada
        • Recruiting
        • Children's Hospital of Eastern Ontario
        • Contact:
        • Principal Investigator:
          • Erick Sell, MD
  • United States
    • California
      • Los Angeles, California, United States, 90048
        • Not yet recruiting
        • Cedars-Sinai Guerin Children's
        • Principal Investigator:
          • Cesar Ochoa-Lubinoff, MD, MPH
      • San Diego, California, United States, 92123
        • Recruiting
        • Rady Children's Hospital, San Diego
        • Principal Investigator:
          • Lynne M. Bird, MD
        • Contact:
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Recruiting
        • Children's Hospital Colorado, Anschutz Medical Campus
        • Contact:
        • Principal Investigator:
          • Diana Walleigh, MD
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Recruiting
        • Emory University School of Medicine
        • Principal Investigator:
          • Amy L. Talboy, MD
        • Contact:
    • Illinois
      • Chicago, Illinois, United States, 60612
        • Recruiting
        • Rush University Children's Hospital
        • Principal Investigator:
          • Elizabeth Berry-Kravis, MD, PhD
        • Contact:
    • Massachusetts
    • North Carolina
      • Carrboro, North Carolina, United States, 27510
        • Recruiting
        • The Carolina Institute for Developmental Disabilities
        • Principal Investigator:
          • Margaret DeRamus, MS, CCC-SLP
        • Contact:
    • Tennessee
      • Nashville, Tennessee, United States, 37232
        • Recruiting
        • Monroe Carell Jr. Children's Hospital at Vanderbilt
        • Principal Investigator:
          • Robert Carson, MD, PhD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All individuals with a molecular diagnosis of Angelman syndrome

Description

Inclusion Criteria:

  • Molecular diagnosis of Angelman syndrome

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Medical History
Time Frame: Through study completion, an average of 1 year
Includes various medical complications, including seizure history
Through study completion, an average of 1 year
Vineland Adaptive Behavior Scales, 3rd edition
Time Frame: Through study completion, an average of 1 year
Developmental and Adaptive skills
Through study completion, an average of 1 year
Bayley Scales of Infant and Toddler Development, 4th edition
Time Frame: Through study completion, an average of 1 year
Developmental skills
Through study completion, an average of 1 year
Observer-Reported Communication Ability (ORCA) Measure
Time Frame: Through study completion, an average of 1 year
Communication skills
Through study completion, an average of 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Boston Children's Hospital

Collaborators

University of California, San Diego
Food and Drug Administration (FDA)
Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)
Foundation for Angelman Syndrome Therapeutics Canada
Foundation for Angelman Syndrome Therapeutics
Angelman Syndrome Foundation, Inc.
Angelman Syndrome Foundation Canada

Investigators

  • Study Chair: Wen-Hann Tan, BMBS, Boston Children's Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 1, 2018

Primary Completion (Estimated)

April 1, 2031

Study Completion (Estimated)

April 1, 2031

Study Registration Dates

First Submitted

August 5, 2020

First Submitted That Met QC Criteria

August 8, 2020

First Posted (Actual)

August 11, 2020

Study Record Updates

Last Update Posted (Actual)

April 3, 2025

Last Update Submitted That Met QC Criteria

March 30, 2025

Last Verified

March 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB-P00025249

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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