Recruiting

Observational Study

Sponsor:

Boston Children's Hospital

Code:

NCT04507997

Conditions

Angelman Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Angelman Syndrome

Study ID

NCT04507997

Start date

Aug 1, 2018

Status verified date

Mar, 2025

Completion date

Apr, 2031

Anticipated

Primary completion date

Apr, 2031

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Molecular diagnosis of Angelman syndrome

Exclusion Criteria:

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

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Medical History [ Time Frame: Through study completion, an average of 1 year ]
  • Vineland Adaptive Behavior Scales, 3rd edition [ Time Frame: 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 ]
  • Observer-Reported Communication Ability (ORCA) Measure [ Time Frame: Through study completion, an average of 1 year ]

Central Contacts and Locations

Central contacts

Wen-Hann Tan, BMBS

617-355 6394wen-hann.tan@childrens.harvard.edu

Batsheva Friedman, MA

617-355-2030Batsheva.Friedman@childrens.harvard.edu

Locations

Rady Children's Hospital, San Diego

Recruiting

San Diego, California, United States, 92123

Contacts

Rachel Winograd, RN

858-966-8453rwinograd@rchsd.org

Principal Investigator:

Lynne M. Bird, MD

Children's Hospital Colorado, Anschutz Medical Campus

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Jen Sargent, MA

720-777-4719jenifer.sargent@childrenscolorado.org

Principal Investigator:

Diana Walleigh, MD

Emory University School of Medicine

Recruiting

Atlanta, Georgia, United States, 30322

Contacts

Aleana Lim, MS, CGC

404-778-0832alaena.ashley.lim@emory.edu

Principal Investigator:

Amy L. Talboy, MD

Rush University Children's Hospital

Recruiting

Chicago, Illinois, United States, 60612

Contacts

Margaret Porwit, BA

312-942-0079margaret_r_porwit@rush.edu

Principal Investigator:

Elizabeth Berry-Kravis, MD, PhD

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Wen-Hann Tan, BMBS

wen-hann.tan@childrens.harvard.edu

Maddie Gramling, BS

617-355-2030Maddie.Gramling@childrens.harvard.edu

The Carolina Institute for Developmental Disabilities

Recruiting

Carrboro, North Carolina, United States, 27510

Contacts

Hannah Riehl, MA

919-962-8462Hannah.Riehl@cidd.unc.edu

Principal Investigator:

Margaret DeRamus, MS, CCC-SLP

Monroe Carell Jr. Children's Hospital at Vanderbilt

Recruiting

Nashville, Tennessee, United States, 37232

Contacts

Kaylee Lynch, BA

615-517-8225kaylee.lynch@vumc.org

Principal Investigator:

Robert Carson, MD, PhD

Alberta Children's Hospital

Recruiting

Calgary, Alberta, Canada

Contacts

Lindsay Phillips, PhD

403-955-7445Lindsay.Phillips@albertahealthservices.ca

Principal Investigator:

Billie (Ping-Yee) Au, MD, PhD

BC Children's Hospital

Recruiting

Vancouver, British Columbia, Canada

Contacts

Kishor Sivanesan, BS

604-875-2345kishor.sivanesan@cw.bc.ca

Principal Investigator:

Cyrus Boelman, MD

Children's Hospital of Eastern Ontario

Recruiting

Ottawa, Ontario, Canada

Contacts

Ioana Moldovan, MD, MSc

613-737-7600IMoldovan@cheo.on.ca

Principal Investigator:

Erick Sell, MD

More Information

Sponsor

Boston Children's Hospital

Last update posted

Apr 3, 2025

Last verified

Mar, 2025

Keywords

  • Angelman syndrome

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2025-04-03.