Angelman SyndromeNCT04507997
Angelman Syndrome Natural History Study
An observational study of Angelman Syndrome, run by Boston Children's Hospital at 11 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Angelman Syndrome
- How many people
- 300 participants
- Where
- 11 sitesin 2 countries
- Study dates
- 1 Aug 2018to Apr 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All individuals with a molecular diagnosis of Angelman syndrome
Who may be able to join
- Molecular diagnosis of Angelman syndrome
Who cannot join
- Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Trial locations and contacts
11 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
11 sites in 2 countries
United States8 sites, 8 recruiting
- Recruiting
Emory University School of Medicine
Atlanta, Georgia, 30322
Aleana Lim, MS, CGC, 404-778-0832, alaena.ashley.lim@emory.edu
Amy L. Talboy, MD
- Recruiting
Children's Hospital Colorado, Anschutz Medical Campus
Aurora, Colorado, 80045
Jen Sargent, MA, 720-777-4719, jenifer.sargent@childrenscolorado.org
Diana Walleigh, MD
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Wen-Hann Tan, BMBS, wen-hann.tan@childrens.harvard.edu
Maddie Gramling, BS, 617-355-2030, Maddie.Gramling@childrens.harvard.edu
- Recruiting
The Carolina Institute for Developmental Disabilities
Carrboro, North Carolina, 27510
Hannah Riehl, MA, 919-962-8462, Hannah.Riehl@cidd.unc.edu
Margaret DeRamus, MS, CCC-SLP
- Recruiting
Rush University Children's Hospital
Chicago, Illinois, 60612
Margaret Porwit, BA, 312-942-0079, margaret_r_porwit@rush.edu
Elizabeth Berry-Kravis, MD, PhD
- Not yet recruiting
Cedars-Sinai Guerin Children's
Los Angeles, California, 90048
Cesar Ochoa-Lubinoff, MD, MPH
- Recruiting
Monroe Carell Jr. Children's Hospital at Vanderbilt
Nashville, Tennessee, 37232
Kaylee Lynch, BA, 615-517-8225, kaylee.lynch@vumc.org
Robert Carson, MD, PhD
- Recruiting
Rady Children's Hospital, San Diego
San Diego, California, 92123
Rachel Winograd, RN, 858-966-8453, rwinograd@rchsd.org
Lynne M. Bird, MD
Canada3 sites, 3 recruiting
- Recruiting
Alberta Children's Hospital
Calgary, Alberta
Lindsay Phillips, PhD, 403-955-7445, Lindsay.Phillips@albertahealthservices.ca
Billie (Ping-Yee) Au, MD, PhD
- Recruiting
Children's Hospital of Eastern Ontario
Ottawa, Ontario
Ioana Moldovan, MD, MSc, 613-737-7600 ext. 2438, IMoldovan@cheo.on.ca
Erick Sell, MD
- Recruiting
BC Children's Hospital
Vancouver, British Columbia
Kishor Sivanesan, BS, 604-875-2345 ext. 6834, kishor.sivanesan@cw.bc.ca
Cyrus Boelman, MD
About this study
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.
Read the 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.
- Conditions
- Angelman Syndrome
- Keywords
- Angelman syndrome
- Medical subject headings
- Angelman Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Medical History
Includes various medical complications, including seizure history
Measured: Through study completion, an average of 1 year
Vineland Adaptive Behavior Scales, 3rd edition
Developmental and Adaptive skills
Measured: Through study completion, an average of 1 year
Bayley Scales of Infant and Toddler Development, 4th edition
Developmental skills
Measured: Through study completion, an average of 1 year
Observer-Reported Communication Ability (ORCA) Measure
Communication skills
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2020
- Study start1 Aug 2018
- Primary completionApr 2031 (estimated)
- Study completionApr 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- University of California, San Diego, Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM), Food and Drug Administration (FDA), Angelman Syndrome Foundation, Inc.
- Responsible party
- Principal investigator, Wen-Hann Tan, Boston Children's Hospital
- Investigators
- Wen-Hann Tan, BMBS, Study chair, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04507997
- Sponsor's protocol ID
- IRB-P00025249
- Status last verified
- Mar 2025
- First submitted
- 5 Aug 2020
- Last updated
- 3 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Angelman Syndrome Natural History Study
- ClinicalTrials.gov ID
- NCT04507997
- Acronym / sponsor ID
- IRB-P00025249
- Conditions
- Angelman Syndrome
- Keywords
- Angelman syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- University of California, San Diego, Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM), Food and Drug Administration (FDA), Angelman Syndrome Foundation, Inc.
- Study start
- 1 Aug 2018 (actual)
- Primary completion
- Apr 2031 (estimated)
- Study completion
- Apr 2031 (estimated)
- First posted
- 11 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All individuals with a molecular diagnosis of Angelman syndrome
Key inclusion criteria (1 listed)
- Molecular diagnosis of Angelman syndrome
Key exclusion criteria (1 listed)
- Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Medical History
Time frame: Through study completion, an average of 1 year
Includes various medical complications, including seizure history
Vineland Adaptive Behavior Scales, 3rd edition
Time frame: Through study completion, an average of 1 year
Developmental and Adaptive skills
Bayley Scales of Infant and Toddler Development, 4th edition
Time frame: Through study completion, an average of 1 year
Developmental skills
Observer-Reported Communication Ability (ORCA) Measure
Time frame: Through study completion, an average of 1 year
Communication skills
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2025.
- Individual participant dataSharing planned: No
Related trials for Angelman Syndrome
RecruitingPhase 3
BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Angelman Syndrome
RecruitingPhase 3
CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS)
Angelman Syndrome
RecruitingObservational study
A Natural History Study of Angelman Syndrome
Angelman Syndrome, Neurodevelopmental Conditions
Active, not recruitingPhase 3
REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
Angelman Syndrome
Active, not recruiting
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Wen-Hann Tan, BMBS study chair
Boston Children's Hospital
11 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome, run by Boston Children's Hospital at 11 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Wen-Hann Tan, BMBS (617-355 6394, wen-hann.tan@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Medical History (time frame: Through study completion, an average of 1 year). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2025.