Angelman Syndrome Natural History Study

NCT ID: NCT04507997

Last Updated: 2025-04-03

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-08-01

Study Completion Date

2031-04-30

Brief Summary

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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

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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

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Angelman Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Molecular diagnosis of Angelman syndrome

Exclusion Criteria

* Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of California, San Diego

OTHER

Sponsor Role collaborator

Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)

UNKNOWN

Sponsor Role collaborator

Food and Drug Administration (FDA)

FED

Sponsor Role collaborator

Angelman Syndrome Foundation Canada

UNKNOWN

Sponsor Role collaborator

Foundation for Angelman Syndrome Therapeutics Canada

UNKNOWN

Sponsor Role collaborator

Foundation for Angelman Syndrome Therapeutics

UNKNOWN

Sponsor Role collaborator

Angelman Syndrome Foundation, Inc.

OTHER

Sponsor Role collaborator

Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Wen-Hann Tan

Attending Physician in Genetics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Wen-Hann Tan, BMBS

Role: STUDY_CHAIR

Boston Children's Hospital

Locations

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Cedars-Sinai Guerin Children's

Los Angeles, California, United States

Site Status NOT_YET_RECRUITING

Rady Children's Hospital, San Diego

San Diego, California, United States

Site Status RECRUITING

Children's Hospital Colorado, Anschutz Medical Campus

Aurora, Colorado, United States

Site Status RECRUITING

Emory University School of Medicine

Atlanta, Georgia, United States

Site Status RECRUITING

Rush University Children's Hospital

Chicago, Illinois, United States

Site Status RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

The Carolina Institute for Developmental Disabilities

Carrboro, North Carolina, United States

Site Status RECRUITING

Monroe Carell Jr. Children's Hospital at Vanderbilt

Nashville, Tennessee, United States

Site Status RECRUITING

Alberta Children's Hospital

Calgary, Alberta, Canada

Site Status RECRUITING

BC Children's Hospital

Vancouver, British Columbia, Canada

Site Status RECRUITING

Children's Hospital of Eastern Ontario

Ottawa, Ontario, Canada

Site Status RECRUITING

Countries

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United States Canada

Central Contacts

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Wen-Hann Tan, BMBS

Role: CONTACT

617-355 6394

Batsheva Friedman, MA

Role: CONTACT

617-355-2030

Facility Contacts

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Rachel Winograd, RN

Role: primary

858-966-8453

Jen Sargent, MA

Role: primary

720-777-4719

Aleana Lim, MS, CGC

Role: primary

404-778-0832

Margaret Porwit, BA

Role: primary

312-942-0079

Wen-Hann Tan, BMBS

Role: primary

Maddie Gramling, BS

Role: backup

617-355-2030

Hannah Riehl, MA

Role: primary

919-962-8462

Kaylee Lynch, BA

Role: primary

615-517-8225

Lindsay Phillips, PhD

Role: primary

403-955-7445

Kishor Sivanesan, BS

Role: primary

604-875-2345 ext. 6834

Ioana Moldovan, MD, MSc

Role: primary

613-737-7600 ext. 2438

Other Identifiers

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IRB-P00025249

Identifier Type: -

Identifier Source: org_study_id

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