Angelman Syndrome Video Assessment (ASVA) Source Material... | NCT05637697

Studies
Angelman Syndrome Video Assessment (ASVA) Source Material Study

NCT05637697

Sponsor

The Emmes Company, LLC

Status

Completed

Last Update Posted

Dec 13, 2023Actual

Enrollment

73Actual

Phase

Not provided

Conditions

Angelman Syndrome

Interventions

Not provided

Countries

United States

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

Large Document Module

Document Has No Statistical Analysis Plan (SAP)

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2023

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Aug 31, 2021Actual

Primary Completion Date

Aug 1, 2023Actual

Completion Date

Aug 1, 2023Actual

First Submitted Date

Aug 11, 2022

First Submission Date that Met QC Criteria

Dec 1, 2022

First Posted Date

Dec 5, 2022Actual

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

Dec 12, 2023

Last Update Posted Date

Dec 13, 2023Actual

Name	Class
Ionis Pharmaceuticals, Inc.	INDUSTRY
Boston Children's Hospital	OTHER

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

This is a longitudinal, observational, nonrandomized, fully remote study enrolling approximately 55 participant-caregiver dyads. The study includes no treatments or interventions, and participants will not be asked to change their current treatments. The objective of this study is to gather sufficient source material videos to develop a scoring system for ASVA and to perform preliminary validation of that scoring system.

Detailed Description

Not provided

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

73Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Source material collection, Baseline	The objective of this study is to gather sufficient source material videos to develop a scoring system for ASVA and to perform preliminary validation of that scoring system.	Baseline
Source material collection, Week 12	The objective of this study is to gather sufficient source material videos to develop a scoring system for ASVA and to perform preliminary validation of that scoring system.	Week 12

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Caregiver reports that the individual with AS has a laboratory-confirmed diagnosis of Angelman syndrome
Individual with AS is at least 1 year old
Caregiver is willing and able to provide informed consent for themselves and oversee study participation
Caregiver or legal guardian is willing to provide informed consent on behalf of the individual with AS
Caregiver is comfortable reading and speaking in English
Caregiver has access to a smartphone or tablet that is compatible with the study app OR caregiver has internet access and is willing to use a wi-fi only device to record and upload videos

NT-Caregiver dyads will be eligible for inclusion if the:

Neurotypical individual is between 1 and 8 years of age
Caregiver is willing and able to provide informed consent and oversee study participation and NT individual is willing and able to provide assent, as applicable
Caregiver is comfortable reading and speaking in English
Caregiver has access to a smartphone or tablet that is compatible with the study app OR caregiver has internet access and is willing to use a wi-fi only device to record and upload videos Participant-Caregiver dyads will be excluded from the study only if they do not meet the inclusion criteria above.

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

1 Year

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

40 participants with Angelman Syndrome (AS) and their caregivers (AS-caregiver dyads) and up to 15 neurotypically (NT) developing children and their caregivers (NT-caregiver dyads) for a total of up to 55 participant-caregiver dyads. AS-caregiver dyads will be recruited for this study through referrals from collaborators and advocacy groups as well as through direct marketing via social media.

Sampling Method

Non-Probability Sample

Label	Type	Description	Intervention Names
Ambulatory
Limited Ambulation

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