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Angelman Syndrome Natural History Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04507997
Recruitment Status : Recruiting
First Posted : August 11, 2020
Last Update Posted : August 4, 2021
Food and Drug Administration (FDA)
University of California, San Diego
Information provided by (Responsible Party):
Wen-Hann Tan, Boston Children's Hospital

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.

Condition or disease
Angelman Syndrome

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.

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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Angelman Syndrome Natural History Study
Actual Study Start Date : August 1, 2018
Estimated Primary Completion Date : August 2022
Estimated Study Completion Date : August 2022

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Medical History [ Time Frame: Through study completion, an average of 1 year ]
    Includes various medical complications, including seizure history

  2. Developmental History [ Time Frame: Through study completion, an average of 1 year ]
    Developmental milestones in all domains

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All individuals with a molecular diagnosis of Angelman syndrome

Inclusion Criteria:

  • Molecular diagnosis of Angelman syndrome

Exclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04507997

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Contact: Wen-Hann Tan, BMBS 617-355 6394
Contact: Johnna O'Sullivan, BA 617-919-4800

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United States, California
Rady Children's Hospital, San Diego Recruiting
San Diego, California, United States, 92123
Contact: Rachel Winograd, BSN    858-966-8453   
Principal Investigator: Lynne M. Bird, MD         
United States, Colorado
Children's Hospital Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Jessica Duis, MD    720-777-1234   
Principal Investigator: Jessica Duis, MD         
United States, Georgia
Emory Clinic Genetics Recruiting
Atlanta, Georgia, United States, 30322
Contact: Hannah Davis    404-778-8421      
Principal Investigator: Amy L. Talboy, MD         
United States, Illinois
Rush University Children's Hospital Recruiting
Chicago, Illinois, United States, 60612
Contact: Kathryn Kudlacz    312-563-9473   
Principal Investigator: Cesar Ochoa, MD, MPH         
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Wen-Hann Tan, BMBS   
Contact: Johnna O'Sullivan, BA    617-919-4800   
United States, North Carolina
The Carolina Institute for Developmental Disabilities Recruiting
Carrboro, North Carolina, United States, 27510
Contact: Margaret DeRamus, MS, CCC-SLP    919-966-5171   
Principal Investigator: Margaret DeRamus, MS, CCC-SLP         
United States, Tennessee
Monroe Carell Jr. Children's Hospital at Vanderbilt Recruiting
Nashville, Tennessee, United States, 37232
Contact: Steven Klintworth, BSN, MSHS    615-875-7596   
Principal Investigator: Robert Carson, MD, PhD         
Sponsors and Collaborators
Boston Children's Hospital
Food and Drug Administration (FDA)
University of California, San Diego
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Study Chair: Wen-Hann Tan, BMBS Boston Children's Hospital
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Responsible Party: Wen-Hann Tan, Attending Physician in Genetics, Boston Children's Hospital Identifier: NCT04507997    
Other Study ID Numbers: IRB-P00025249
First Posted: August 11, 2020    Key Record Dates
Last Update Posted: August 4, 2021
Last Verified: August 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Wen-Hann Tan, Boston Children's Hospital:
Angelman syndrome
Additional relevant MeSH terms:
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Angelman Syndrome
Pathologic Processes
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn