Clinical trial NCT04507997: Angelman Syndrome Natural History Study
Official title: Angelman Syndrome Natural History Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Angelman Syndrome
Keywords: Angelman syndrome
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: University of California, San Diego
name: Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)
name: Food and Drug Administration (FDA)
name: Angelman Syndrome Foundation Canada
name: Foundation for Angelman Syndrome Therapeutics Canada
name: Foundation for Angelman Syndrome Therapeutics
name: Angelman Syndrome Foundation, Inc.
First posted: 2020-08-11
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All individuals with a molecular diagnosis of 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.

Eligibility criteria: Inclusion Criteria:

* Molecular diagnosis of Angelman syndrome

Exclusion Criteria:

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

Primary outcomes:
measure: Medical History
timeFrame: Through study completion, an average of 1 year
measure: Vineland Adaptive Behavior Scales, 3rd edition
timeFrame: Through study completion, an average of 1 year
measure: Bayley Scales of Infant and Toddler Development, 4th edition
timeFrame: Through study completion, an average of 1 year
measure: Observer-Reported Communication Ability (ORCA) Measure
timeFrame: Through study completion, an average of 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Cedars-Sinai Guerin Children's
state: California
city: San Diego
country: United States
facility: Rady Children's Hospital, San Diego
state: California
city: Aurora
country: United States
facility: Children's Hospital Colorado, Anschutz Medical Campus
state: Colorado
city: Atlanta
country: United States
facility: Emory University School of Medicine
state: Georgia
city: Chicago
country: United States
facility: Rush University Children's Hospital
state: Illinois
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Carrboro
country: United States
facility: The Carolina Institute for Developmental Disabilities
state: North Carolina
city: Nashville
country: United States
facility: Monroe Carell Jr. Children's Hospital at Vanderbilt
state: Tennessee
city: Calgary
country: Canada
facility: Alberta Children's Hospital
state: Alberta
city: Vancouver
country: Canada
facility: BC Children's Hospital
state: British Columbia
city: Ottawa
country: Canada
facility: Children's Hospital of Eastern Ontario
state: Ontario
Study officials:
affiliation: Boston Children's Hospital
name: Wen-Hann Tan, BMBS
role: STUDY_CHAIR
References: