Angelman Syndrome Natural History 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.

Study Overview

• Status: Recruiting
• Conditions: 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.

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Wen-Hann Tan, BMBS; Phone Number: 617-355 6394; Email: wen-hann.tan@childrens.harvard.edu
• Study Contact Backup: Name: Batsheva Friedman, MA; Phone Number: 617-355-2030; Email: Batsheva.Friedman@childrens.harvard.edu

Study Locations

• Canada
  • Alberta
    • Calgary, Alberta, Canada
      • Recruiting
      • Alberta Children's Hospital
      • Principal Investigator: Billie (Ping-Yee) Au, MD, PhD
      • Contact: Lindsay Phillips, PhD; Phone Number: 403-955-7445; Email: lindsay.phillips@albertahealthservices.ca
  • British Columbia
    • Vancouver, British Columbia, Canada
      • Recruiting
      • BC Children's Hospital
      • Contact: Inderpal Gill; Phone Number: 6834 604-875-2345; Email: inderpal.gill@cw.bc.ca
      • Principal Investigator: Cyrus Boelman, MD
  • Ontario
    • Ottawa, Ontario, Canada
      • Recruiting
      • Children's Hospital of Eastern Ontario
      • Contact: Ioana Moldovan, MD, MSc; Phone Number: 2438 613-737-7600; Email: IMoldovan@cheo.on.ca
      • Principal Investigator: Erick Sell, MD
• United States
  • California
    • San Diego, California, United States, 92123
      • Recruiting
      • Rady Children's Hospital, San Diego
      • Principal Investigator: Lynne M. Bird, MD
      • Contact: Hannah Folk; Phone Number: 221543 858-576-1700; Email: Hfolk1@rchsd.org
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Recruiting
      • Emory University School of Medicine
      • Principal Investigator: Amy L. Talboy, MD
      • Contact: Amber Buehrle (Leston), MS; Phone Number: 404-778-1014; Email: amber.nicole.leston@emory.edu
  • Illinois
    • Chicago, Illinois, United States, 60612
      • Recruiting
      • Rush University Children's Hospital
      • Principal Investigator: Elizabeth Berry-Kravis, MD, PhD
      • Contact: Margaret Porwit, BA; Phone Number: 312-942-0079; Email: margaret_r_porwit@rush.edu
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital
      • Contact: Wen-Hann Tan, BMBS; Email: wen-hann.tan@childrens.harvard.edu
      • Contact: Lotus Lichty, BA; Phone Number: 617-919-2536; Email: Lotus.Lichty@childrens.harvard.edu
  • North Carolina
    • Carrboro, North Carolina, United States, 27510
      • Recruiting
      • The Carolina Institute for Developmental Disabilities
      • Contact: Margaret DeRamus, MS, CCC-SLP; Phone Number: 919-966-5171; Email: margaret.deramus@cidd.unc.edu
      • Principal Investigator: Margaret DeRamus, MS, CCC-SLP
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Recruiting
      • Monroe Carell Jr. Children's Hospital at Vanderbilt
      • Contact: Alexis Calvert, MPH; Phone Number: 615-875-8513; Email: alexis.calvert@vumc.org
      • Principal Investigator: Robert Carson, MD, PhD

Participation Criteria

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

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Collaborators: University of California, San Diego; Food and Drug Administration (FDA); Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM); Canadian Angelman Syndrome Society; Foundation for Angelman Syndrome Therapeutics Canada; Foundation for Angelman Syndrome Therapeutics; Angelman Syndrome Foundation, Inc.
• Investigators: Study Chair: Wen-Hann Tan, BMBS, Boston Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2018
• Primary Completion (Estimated): August 1, 2025
• Study Completion (Estimated): August 1, 2025

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): August 1, 2023
• Last Update Submitted That Met QC Criteria: July 27, 2023
• Last Verified: July 1, 2023

More Information

Terms related to this study

• Keywords: Angelman syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Central Nervous System Diseases; Nervous System Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Movement Disorders; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Angelman Syndrome
• 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