Angelman SyndromeASVA SMSNCT05637697
Angelman Syndrome Video Assessment (ASVA) Source Material Study
An observational study of Angelman Syndrome, run by The Emmes Company, LLC at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year and olderHealthy volunteers can take part
- Conditions the study is for
- Angelman Syndrome
- How many people
- 73 participants
- Where
- 1 siteUnited States
- Study dates
- 31 Aug 2021to 1 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older 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.
- 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.
Trial locations and contacts
1 site in 1 country.
About this 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.
- Conditions
- Angelman Syndrome
- Keywords
- Angelman Syndrome
- Medical subject headings
- Angelman Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Ambulatory | Not described | |
| Limited Ambulation | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Week 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Dec 2022
- Study start31 Aug 2021
- Primary completion1 Aug 2023
- Study completion1 Aug 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 73 participants (actual)
Sponsor and investigators
- Lead sponsor
- The Emmes Company, LLC
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Ionis Pharmaceuticals, Inc., Boston Children's Hospital
- Responsible party
- Sponsor
- Investigators
- Mindy Leffler, Principal investigator, Casimir
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05637697
- Sponsor's protocol ID
- CAS-CAS006
- Acronym
- ASVA SMS
- Status last verified
- Dec 2023
- First submitted
- 11 Aug 2022
- Last updated
- 13 Dec 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Dec 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Angelman Syndrome Video Assessment (ASVA) Source Material Study
- ClinicalTrials.gov ID
- NCT05637697
- Acronym / sponsor ID
- ASVA SMS / CAS-CAS006
- Conditions
- Angelman Syndrome
- Keywords
- Angelman Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 73 participants (actual)
- Lead sponsor
- The Emmes Company, LLCIndustry (pharma, biotech, devices)
- Collaborators
- Ionis Pharmaceuticals, Inc., Boston Children's Hospital
- Study start
- 31 Aug 2021 (actual)
- Primary completion
- 1 Aug 2023 (actual)
- Study completion
- 1 Aug 2023 (actual)
- First posted
- 5 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Ambulatory | – | – |
| Limited Ambulation | – | – |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Dec 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mindy Leffler principal investigator
Casimir
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome, run by The Emmes Company, LLC at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Dec 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Source material collection, Baseline (time frame: Baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Dec 2023.