NCT05637697

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
73

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Aug 2021

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 31, 2021

Completed
12 months until next milestone

First Submitted

Initial submission to the registry

August 11, 2022

Completed
4 months until next milestone

First Posted

Study publicly available on registry

December 5, 2022

Completed
8 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2023

Completed
Last Updated

December 13, 2023

Status Verified

December 1, 2023

Enrollment Period

1.9 years

First QC Date

August 11, 2022

Last Update Submit

December 12, 2023

Conditions

Angelman Syndrome

Keywords

Angelman Syndrome

Outcome Measures

Primary Outcomes (2)

  • 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

Study Arms (2)

Ambulatory

Limited Ambulation

Eligibility Criteria

Age1 Year+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Casimir

Kingston, Massachusetts, 02364, United States

Location

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement DisordersCentral Nervous System DiseasesNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornImprinting Disorders

Study Officials

  • Mindy Leffler

    Casimir

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 11, 2022

First Posted

December 5, 2022

Study Start

August 31, 2021

Primary Completion

August 1, 2023

Study Completion

August 1, 2023

Last Updated

December 13, 2023

Record last verified: 2023-12

Locations

US(1)