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

The EMMES Corporation

Status

Completed

Conditions

Angelman Syndrome

Study type

Observational

Funder types

Other

Industry

Identifiers

NCT05637697

CAS-CAS006

Details and patient eligibility

About

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.

Enrollment

73 patients

Sex

All

Ages

1+ year old

Volunteers

Accepts Healthy Volunteers

Inclusion and exclusion 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.