Angelman Syndrome Natural History Study
1 other identifier
observational
300
2 countries
11
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Aug 2018
Longer than P75 for all trials
11 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
August 1, 2018
CompletedFirst Submitted
Initial submission to the registry
August 5, 2020
CompletedFirst Posted
Study publicly available on registry
August 11, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 1, 2031
ExpectedStudy Completion
Last participant's last visit for all outcomes
April 1, 2031
April 3, 2025
March 1, 2025
12.7 years
August 5, 2020
March 30, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (4)
Medical History
Includes various medical complications, including seizure history
Through study completion, an average of 1 year
Vineland Adaptive Behavior Scales, 3rd edition
Developmental and Adaptive skills
Through study completion, an average of 1 year
Bayley Scales of Infant and Toddler Development, 4th edition
Developmental skills
Through study completion, an average of 1 year
Observer-Reported Communication Ability (ORCA) Measure
Communication skills
Through study completion, an average of 1 year
Eligibility Criteria
All individuals with a molecular diagnosis of Angelman syndrome
You may qualify if:
- Molecular diagnosis of Angelman syndrome
You may not qualify if:
- Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Boston Children's Hospitallead
- University of California, San Diegocollaborator
- Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)collaborator
- Food and Drug Administration (FDA)collaborator
- Angelman Syndrome Foundation Canadacollaborator
- Foundation for Angelman Syndrome Therapeutics Canadacollaborator
- Foundation for Angelman Syndrome Therapeuticscollaborator
- Angelman Syndrome Foundation, Inc.collaborator
Study Sites (11)
Cedars-Sinai Guerin Children's
Los Angeles, California, 90048, United States
Rady Children's Hospital, San Diego
San Diego, California, 92123, United States
Children's Hospital Colorado, Anschutz Medical Campus
Aurora, Colorado, 80045, United States
Emory University School of Medicine
Atlanta, Georgia, 30322, United States
Rush University Children's Hospital
Chicago, Illinois, 60612, United States
Boston Children's Hospital
Boston, Massachusetts, 02115, United States
The Carolina Institute for Developmental Disabilities
Carrboro, North Carolina, 27510, United States
Monroe Carell Jr. Children's Hospital at Vanderbilt
Nashville, Tennessee, 37232, United States
Alberta Children's Hospital
Calgary, Alberta, Canada
BC Children's Hospital
Vancouver, British Columbia, Canada
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY CHAIR
Wen-Hann Tan, BMBS
Boston Children's Hospital
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Attending Physician in Genetics
Study Record Dates
First Submitted
August 5, 2020
First Posted
August 11, 2020
Study Start
August 1, 2018
Primary Completion (Estimated)
April 1, 2031
Study Completion (Estimated)
April 1, 2031
Last Updated
April 3, 2025
Record last verified: 2025-03
Data Sharing
- IPD Sharing
- Will not share