Angelman Syndrome Natural History Study | NCT04507997

Studies
Angelman Syndrome Natural History Study

NCT04507997

Sponsor

Boston Children's Hospital

Status

Recruiting

Last Update Posted

Apr 3, 2025Actual

Enrollment

300Estimated

Phase

Not provided

Conditions

Angelman Syndrome

Interventions

Not provided

Countries

United States
Canada

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Aug 1, 2018Actual

Primary Completion Date

Apr 2031Estimated

Completion Date

Apr 2031Estimated

First Submitted Date

Aug 5, 2020

First Submission Date that Met QC Criteria

Aug 8, 2020

First Posted Date

Aug 11, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 30, 2025

Last Update Posted Date

Apr 3, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Wen-Hann Tan, Attending Physician in Genetics, Boston Children's HospitalPrincipal Investigator

Lead Sponsor

Boston Children's HospitalOTHER

Collaborators

Name	Class
University of California, San Diego	OTHER
Angelman Syndrome Biomarker & Outcome Measure Consortium (A-BOM)	UNKNOWN
Food and Drug Administration (FDA)	FED

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

300Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Medical History	Includes various medical complications, including seizure history	Through study completion, an average of 1 year
Vineland Adaptive Behavior Scales, 3rd edition	Developmental and Adaptive skills	Through study completion, an average of 1 year
Bayley Scales of Infant and Toddler Development, 4th edition	Developmental skills	Through study completion, an average of 1 year
Observer-Reported Communication Ability (ORCA) Measure	Communication skills	Through study completion, an average of 1 year

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Molecular diagnosis of Angelman syndrome

Exclusion Criteria:

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

All individuals with a molecular diagnosis of Angelman syndrome

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Wen-Hann Tan, BMBS	Contact	617-355 6394		wen-hann.tan@childrens.harvard.edu
Batsheva Friedman, MA	Contact	617-355-2030		Batsheva.Friedman@childrens.harvard.edu

Overall Officials

Name	Affiliation	Role
Wen-Hann Tan, BMBS	Boston Children's Hospital	Study Chair

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Cedars-Sinai Guerin Children's	Not yet recruiting	Los Angeles	California	90048	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D017204	Angelman Syndrome

Ancestor Terms

ID	Term
D009069	Movement Disorders
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases
D000015	Abnormalities, Multiple

Browse Leaves

Not provided

Browse Branches

Not provided