Angelman SyndromeNCT06337383
Study of the Prevalence of Autistic Traits in Angelman Syndrome
An observational study of Angelman Syndrome, run by IRCCS Eugenio Medea at 1 site in Italy.
Trial summary
The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome. The main questions it aims to answer are: which clinical variables differentiate AS patients with and without Autism Spectrum Disorder between genetics… Read more about this study
- Who is it for?
- Ages 4 to 14 years
- Conditions the study is for
- Angelman Syndrome
- How many people
- 46 participants
- Where
- 1 siteItaly
- Study dates
- 15 Mar 2022to Jun 2024
- 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 4 to 14 years
- All sexes
- No healthy volunteers
- Child
Study population: Participants are recruited at I.R.C.C.S. "E. Medea", in Conegliano (Italian referral centre for Anelman Syndrome) in collaboration with Or.S.A (the Italian organisation for the syndrome).
Who may be able to join
- genetically confirmed diagnosis of Angelman Syndrome
- chronological age between 4-15 years
Who cannot join
- genetic examination pending report
- mental age lower than 12 months
- brain injury acquired in the peri- or postnatal period
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
I.R.C.C.S. "E.Medea"
Conegliano, Treviso, 31015
Martina Baggio, +39 340 802 1282, martina.baggio@lanostrafamiglia.it
About this study
Official title: Study of the Prevalence of Autistic Traits in Angelman Syndrome, the Correlation With Cognitive Level, Epilepsy, With Socio-communication Skills and Parenting Styles
The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome. The main questions it aims to answer are:
- which clinical variables differentiate AS patients with and without Autism Spectrum Disorder between genetics, epilepsy, pharmacotherapy, behavioural problems, parenting style and parents' perceived stress.
- which clinical variables differentiate parenting styles and levels of perceived stress.
Data from neuropsychological, speech therapy and physiotherapeutic assessments are collected during regular clinical follow-ups, regarding: cognitive development ("Bayely Scales of Infant Development-III", Cognitive Scale) and adaptive behaviour; Autism and Autism Spectrum Disorder ("Autism Diagnostic Observational Schedule-2"); parental stress and parenting styles; social-communicative skills; motor development.
- Conditions
- Angelman Syndrome
- Medical subject headings
- Angelman Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Total score of the Autism Diagnostic Observation Schedule -2 (ADOS-2), Module 1,
The ADOS-2 consists of different semi-structured standard situations that induce communication, social interaction and imaginative play and that is considered a gold standard in autism assessment; Module 1, that does not require the use of speech, is employed.
In particular, our outcome of interest is the "Total score", given by the sum of the "Communication and Reciprocal Social Interactions" and the "Stereotyped Behaviors and Restricted Interests" raw scores. Higher scores correspond to a greater presence of autistic features (min:0; max:28; cut-off for autism spectrum disorder:11; cut-off for autism disorder:16).
Measured: Once at recruitment
Secondary outcomes (4)
Age-equivalent score at the Cognitive Scale of the Bayley Scales of Infant Development - 3rd version (Bayley-III)
The Bayley-III Cognitive Scale is used to assess cognitive level. In particular, age-equivalent scores are considered (min: 1 months; max: 42 months).
Measured: Once at recruitment
Total Stress score at the Parent Stress Index - 4th edition (PSI-4) questionnaire
PSI-4 is a standardised parent self-report instrument to explore perceived stress in their role and therefore to identify situations at risk of dysfunctional parent-child system. It is composed of two subscales: the child domain, that identifies six child characteristics, and the parent domain, that describes seven stressors related to parent and family characteristics. Our outcome of interest is the Total Stress score, given by the sum of the scores obtained at the "Child domain" and the "Parent domain".
Higher scores correspond to a greater level of parental stress.
Measured: Once at recruitment
Global score at the Aberrant Behaviour Checklist (ABC)
The ABC is a questionnaire that measures psychiatric symptoms and behavioural disturbance in individuals with severe or very severe intellectual disability across 5 domains: irritability, agitation and crying; lethargy/social withdrawal; stereotypic behaviour; hyperactivity/noncompliance; inappropriate speech. It is useful to assess the possible effects of medications or other treatments. In particular is considered the Global score, obtained from the sum of the scores at each subscale (min: 0; max: 171; higher scores correspond to a greater level of behavioural problems).
Measured: Once at recruitment
Total Raw score at the Social Communication Questionnaire - Current version(SCQ)
Children's communication, social and interpersonal skills are indirectly investigated through the Social Communication Questionnaire- Current version. It screens for characteristics associated with Autism (cut-off: 22) and Autism Spectrum Disorder (cut-off: 15) such as social interaction, communication and repetitive behaviour, considering the last three months (min: 0; max: 33).
Measured: Once at recruitment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Mar 2024
- Study start15 Mar 2022
- Primary completionJun 2024 (estimated)
- Study completionJun 2024 (estimated)
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.
- More trials run by IRCCS Eugenio MedeaThe sponsor's other registered studies.
- 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 46 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Eugenio Medea
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Martina Baggio, Principal investigator, Scientific Institute IRCCS E. Medea, Epilepsy Unit, Conegliano 31015, Italy
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06337383
- Sponsor's protocol ID
- 12.2021 ANGELMAN
- Status last verified
- Apr 2024
- First submitted
- 21 Mar 2024
- Last updated
- 18 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Prevalence of Autistic Traits in Angelman Syndrome, the Correlation With Cognitive Level, Epilepsy, With Socio-communication Skills and Parenting Styles
- ClinicalTrials.gov ID
- NCT06337383
- Acronym / sponsor ID
- 12.2021 ANGELMAN
- Conditions
- Angelman Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 46 participants (estimated)
- Lead sponsor
- IRCCS Eugenio MedeaUniversity, hospital or other
- Study start
- 15 Mar 2022 (actual)
- Primary completion
- Jun 2024 (estimated)
- Study completion
- Jun 2024 (estimated)
- First posted
- 29 Mar 2024 (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.
The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome. The main questions it aims to answer are:
- which clinical variables differentiate AS patients with and without Autism Spectrum Disorder between genetics, epilepsy, pharmacotherapy, behavioural problems, parenting style and parents' perceived stress.
- which clinical variables differentiate parenting styles and levels of perceived stress.
Data from neuropsychological, speech therapy and physiotherapeutic assessments are collected during regular clinical follow-ups, regarding: cognitive development ("Bayely Scales of Infant Development-III", Cognitive Scale) and adaptive behaviour; Autism and Autism Spectrum Disorder ("Autism Diagnostic Observational Schedule-2"); parental stress and parenting styles; social-communicative skills; motor development.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 4 to 14 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Participants are recruited at I.R.C.C.S. "E. Medea", in Conegliano (Italian referral centre for Anelman Syndrome) in collaboration with Or.S.A (the Italian organisation for the syndrome).
Key inclusion criteria (2 listed)
- genetically confirmed diagnosis of Angelman Syndrome
- chronological age between 4-15 years
Key exclusion criteria (3 listed)
- genetic examination pending report
- mental age lower than 12 months
- brain injury acquired in the peri- or postnatal period
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
Total score of the Autism Diagnostic Observation Schedule -2 (ADOS-2), Module 1,
Time frame: Once at recruitment
The ADOS-2 consists of different semi-structured standard situations that induce communication, social interaction and imaginative play and that is considered a gold standard in autism assessment; Module 1, that does not require the use of speech, is employed. In particular, our outcome of interest is the "Total score", given by the sum of the "Communication and Reciprocal Social Interactions" and the "Stereotyped Behaviors and Restricted Interests" raw scores. Higher scores correspond to a greater presence of autistic features (min:0; max:28; cut-off for autism spectrum disorder:11; cut-off for autism disorder:16).
4 secondary outcomes
Age-equivalent score at the Cognitive Scale of the Bayley Scales of Infant Development - 3rd version (Bayley-III)
Time frame: Once at recruitment
Total Stress score at the Parent Stress Index - 4th edition (PSI-4) questionnaire
Time frame: Once at recruitment
Global score at the Aberrant Behaviour Checklist (ABC)
Time frame: Once at recruitment
Total Raw score at the Social Communication Questionnaire - Current version(SCQ)
Time frame: Once at recruitment
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Apr 2024.
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A Natural History Study of Angelman Syndrome
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REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
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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.
Martina Baggio principal investigator
Scientific Institute IRCCS E. Medea, Epilepsy Unit, Conegliano 31015, Italy
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 IRCCS Eugenio Medea at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. 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: status not confirmed, as of the sponsor's last update on 18 Apr 2024. 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 Italy. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Martina Baggio (+39 340 802 1282, martina.baggio@lanostrafamiglia.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Total score of the Autism Diagnostic Observation Schedule -2 (ADOS-2), Module 1, (time frame: Once at recruitment). 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 18 Apr 2024.