Angelman Syndrome Natural History Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Angelman Syndrome. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Canada
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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.
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.
Primary outcome measures
- Medical History [Time frame: Through study completion, an average of 1 year]
- Vineland Adaptive Behavior Scales, 3rd edition [Time frame: Through study completion, an average of 1 year]
- Bayley Scales of Infant and Toddler Development, 4th edition [Time frame: Through study completion, an average of 1 year]
- Observer-Reported Communication Ability (ORCA) Measure [Time frame: Through study completion, an average of 1 year]
Eligibility criteria
Inclusion criteria
- Molecular diagnosis of Angelman syndrome
Exclusion criteria
- Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 8 centers
- Cedars-Sinai Guerin Children's — Los Angeles
- Rady Children's Hospital, San Diego — San Diego
- Children's Hospital Colorado, Anschutz Medical Campus — Aurora
- Emory University School of Medicine — Atlanta
- Rush University Children's Hospital — Chicago
- Boston Children's Hospital — Boston
- The Carolina Institute for Developmental Disabilities — Carrboro
- Monroe Carell Jr. Children's Hospital at Vanderbilt — Nashville
Canada · 3 centers
- Alberta Children's Hospital — Calgary
- BC Children's Hospital — Vancouver
- Children's Hospital of Eastern Ontario — Ottawa
Identifiers
NCT: NCT04507997 · IRB-P00025249