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NCT Number: NCT04507997

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.

Recruiting

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Key information

Conditions

Angelman Syndrome Abnormalities, Multiple Central Nervous System Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Imprinting Disorders Movement Disorders Nervous System Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Alberta Children's Hospital, Calgary, Alberta, Canada

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Molecular diagnosis of Angelman syndrome

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. Medical History

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

    Includes various medical complications, including seizure history

  2. Vineland Adaptive Behavior Scales, 3rd edition

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

    Developmental and Adaptive skills

  3. Bayley Scales of Infant and Toddler Development, 4th edition

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

    Developmental skills

  4. Observer-Reported Communication Ability (ORCA) Measure

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

    Communication skills

Study contacts

Contact information is provided by the study sponsor or research team.

Batsheva Friedman, MA

CONTACT

[email protected]

617-355-2030

Wen-Hann Tan, BMBS

CONTACT

[email protected]

617-355 6394

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

  • Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)
  • Angelman Syndrome Foundation, Inc.
  • Food and Drug Administration (FDA)
  • University of California, San Diego

Registry information

Important dates

Study start
2018
Primary completion
2031
Study completion
2031
First posted
Aug 11, 2020
Registry last updated
Apr 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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