Angelman Syndrome Natural History Study

Boston Children's Hospital300 enrolled

Overview

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.

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

300

Conditions

Angelman Syndrome

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Molecular diagnosis of Angelman syndrome Exclusion Criteria: * Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment

Locations (11)

Cedars-Sinai Guerin Children's

Los Angeles, California, United States

NOT_YET_RECRUITING

Rady Children's Hospital, San Diego

San Diego, California, United States

RECRUITING

Outcomes

Primary Outcomes

Medical History

Includes various medical complications, including seizure history

Time frame: Through study completion, an average of 1 year

Vineland Adaptive Behavior Scales, 3rd edition

Developmental and Adaptive skills

Time frame: Through study completion, an average of 1 year

Bayley Scales of Infant and Toddler Development, 4th edition

Developmental skills

Time frame: Through study completion, an average of 1 year

Observer-Reported Communication Ability (ORCA) Measure

Communication skills

Time frame: Through study completion, an average of 1 year

Central Contacts

Wen-Hann Tan, BMBS

CONTACT

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

Batsheva Friedman, MA

CONTACT

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

Data from ClinicalTrials.gov

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