Angelman Syndrome Natural History Study
- Conditions
- Angelman Syndrome
- Registration Number
- NCT04507997
- Lead Sponsor
- Boston Children's Hospital
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 300
- Molecular diagnosis of Angelman syndrome
- Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (11)
Cedars-Sinai Guerin Children's
🇺🇸Los Angeles, California, United States
Children's Hospital Colorado, Anschutz Medical Campus
🇺🇸Aurora, Colorado, United States
Rady Children's Hospital, San Diego
🇺🇸San Diego, California, United States
Emory University School of Medicine
🇺🇸Atlanta, Georgia, United States
Rush University Children's Hospital
🇺🇸Chicago, Illinois, United States
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
The Carolina Institute for Developmental Disabilities
🇺🇸Carrboro, North Carolina, United States
Monroe Carell Jr. Children's Hospital at Vanderbilt
🇺🇸Nashville, Tennessee, United States
Alberta Children's Hospital
🇨🇦Calgary, Alberta, Canada
BC Children's Hospital
🇨🇦Vancouver, British Columbia, Canada
Children's Hospital of Eastern Ontario
🇨🇦Ottawa, Ontario, Canada