Angelman Syndrome Natural History Study

Boston Children's Hospital

Status: Enrolling

Conditions: Angelman Syndrome

Study type: Observational

Funder types: Other; Other U.S. Federal agency

Identifiers

NCT04507997

IRB-P00025249

Details and patient eligibility

About

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.

Full 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.

Enrollment: 300 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Molecular diagnosis of Angelman syndrome

Exclusion criteria

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