Angelman Syndrome
Conditions
Keywords
Angelman syndrome
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.
Detailed 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.
Interventions
None listed
Sponsors
University of California, San Diego
Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)
Food and Drug Administration (FDA)
Angelman Syndrome Foundation Canada
Foundation for Angelman Syndrome Therapeutics Canada
Foundation for Angelman Syndrome Therapeutics
Angelman Syndrome Foundation, Inc.
Boston Children's Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Molecular diagnosis of Angelman syndrome
Exclusion criteria
* Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Medical History | Through study completion, an average of 1 year | Includes various medical complications, including seizure history |
| Vineland Adaptive Behavior Scales, 3rd edition | Through study completion, an average of 1 year | Developmental and Adaptive skills |
| Bayley Scales of Infant and Toddler Development, 4th edition | Through study completion, an average of 1 year | Developmental skills |
| Observer-Reported Communication Ability (ORCA) Measure | Through study completion, an average of 1 year | Communication skills |
Countries
Canada, United States
Contacts
Primary ContactWen-Hann Tan, BMBS
Backup ContactBatsheva Friedman, MA
Outcome results
None listed