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OpenTrials
Completed

NCT Number: NCT05637697

Angelman Syndrome Video Assessment (ASVA) Source Material Study

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.

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Key information

Conditions

Angelman Syndrome Abnormalities, Multiple Central Nervous System Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Imprinting Disorders Movement Disorders Nervous System Diseases

Age range

1 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Casimir

Kingston, Massachusetts, 02364, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

  • 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.

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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.

Sponsors and collaborators

Lead sponsor

The Emmes Company, LLC

Industry

Collaborators

  • Boston Children's Hospital
  • Ionis Pharmaceuticals, Inc.

Registry information

Acronym: ASVA SMS

Important dates

Study start
2021
Primary completion
2023
Study completion
2023
First posted
Dec 5, 2022
Registry last updated
Dec 13, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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