Angelman Syndrome Video Assessment (ASVA) Source Material Study (ASVA SMS)

December 12, 2023 updated by: The Emmes Company, LLC
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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

73

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Massachusetts
      • Kingston, Massachusetts, United States, 02364
        • Casimir

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

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.

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Ambulatory
Limited Ambulation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Source material collection, Baseline
Time Frame: 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
Time Frame: 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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The Emmes Company, LLC

Collaborators

Boston Children's Hospital
Ionis Pharmaceuticals, Inc.

Investigators

  • Principal Investigator: Mindy Leffler, Casimir

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 31, 2021

Primary Completion (Actual)

August 1, 2023

Study Completion (Actual)

August 1, 2023

Study Registration Dates

First Submitted

August 11, 2022

First Submitted That Met QC Criteria

December 1, 2022

First Posted (Actual)

December 5, 2022

Study Record Updates

Last Update Posted (Estimated)

December 13, 2023

Last Update Submitted That Met QC Criteria

December 12, 2023

Last Verified

December 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CAS-CAS006

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Angelman Syndrome

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Senegal

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe