PTEN Hamartoma Tumor SyndromeNCT05671107
Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients
An observational study of PTEN Hamartoma Tumor Syndrome, run by John Carroll University at 2 sites in 2 countries.
Trial summary
The purpose of this study is to develop a survey completed by parents, caregivers, or other informants that evaluates several important domains of functioning relevant to individuals with neurodevelopmental disorders, including autism spectrum disorder and people with genetic syndromes. Read more about this study
- Who is it for?
- Ages 3 to 45 years
- Conditions the study is for
- PTEN Hamartoma Tumor Syndrome
- What is being tested?
- NET
- How many people
- 300 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 9 Sep 2021to 30 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 3 to 45 years
- All sexes
- Child, Adult
Study population: Community sample
Who may be able to join
- Has a PTEN Hamartoma Tumor Syndrome diagnosis with or without a neurodevelopment disorder
- Access to a tablet (10+ inch screen), laptop, or desktop computer
- Access to reliable internet
- Able to attend to short videos (30 plus seconds)
- Able to hear audio from a computer device
- Able to see without corrective lenses
Who cannot join
None listed.
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
United States1 site
John Carroll Univeristy
University Heights, Ohio, 44118
United Kingdom1 site
University Hospital South Hampton
Hampton, Southampton, S016 6YD
About this study
Official title: Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Hamartoma Tumor Syndrome (PHTS)
The purpose of this study is to develop a survey completed by parents, caregivers, or other informants that evaluates several important domains of functioning relevant to individuals with neurodevelopmental disorders, including autism spectrum disorder and people with genetic syndromes. Participation in this research will include assisting the research team in the development of the survey measures.
Read the detailed description
With greater understanding of the biology of PTEN Hamartoma Tumor Syndrome (PHTS), including patients with and without neurodevelopmental disorder (NDD) phenotypes, there is potential to develop novel personalized therapeutics. Given the recent observation that many PHTS patients with and without NDD have significant neurobehavioral manifestations, it will be crucial to broadly track a range of neurobehavioral domains as part of future trials. Unfortunately, there are few well-validated measures that would be appropriate for the full range of presentations in the PHTS population. Further, as a rare genetic syndrome, PHTS patients are geographically distributed making frequent data collection during research very difficult. Thus, the overarching aim of this proposal is to develop and validate an online neurobehavioral evaluation tool (NET) with caregiver-report survey scales and patient-completed webcam-collected performance measures that captures key neurobehavioral information. In partnership with patients, caregivers, and scientist-clinician experts, the study will develop, pilot test, and validate NET survey and performance measures. Specifically, at least 240 caregiver-patient pairs will be recruited (patient ages 4-24) from PHTS without NDD, PHTS with NDD, and controls (sibling and unrelated healthy controls). NET data will be collected at baseline, 1-month, and 4-month follow-up. Aim 1 will focus on the development and validation of brief, psychometrically-sound NET survey scales. Aim 2 will conduct group comparisons on NET measures. Aim 3 will use longitudinal data to evaluate short-term stability of NET survey scales and describe neurobehavioral change within and across study groups. The project will also explore the feasibility of performance measure collection, provide initial psychometric evaluation, and conduct a group comparison of performance measures. If the project aims are achieved, and future validation supports research and clinical use, the NET will be an efficient, reliable, valid, co-normed, multi-modal instrument, that, by virtue of online (at-home) administration, will decrease patient and family burden and increase the temporal resolution and power of future longitudinal studies and clinical trials.
- Conditions
- PTEN Hamartoma Tumor Syndrome
- Being tested
- NET
- Keywords
- Neurodevelopmental disorders, PTEN, PHTS, Autism, Online Assessment, Neurobehavioral
- Medical subject headings
- Hamartoma Syndrome, Multiple, Neurodevelopmental Disorders, Autistic Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NETDiagnostic test
Online survey measuring a variety of developmental domains including anxiety, motor, daily living skills, challenging behaviors, social communication, restrictive and repetitive behaviors, ADHD, executive functioning, mood, quality of life, and sleep
| Study group | Role | What they receive |
|---|---|---|
| PTEN - with NDD | Patients diagnosed with PTEN Hamartoma Tumor Syndrome and a neurodevelopmental disorder including but not limited to autism spectrum disorder, attention-deficit disorder / attention-deficit hyperactivity disorder, speech language disorder(s), intellectual disability, global developmental delay, oppositional defiant disorder, and / or motor or developmental disorders. Receives: Diagnostic Test: NET | |
| PTEN - without NDD | Patients diagnosed with PTEN Hamartoma Tumor Syndrome Receives: Diagnostic Test: NET | |
| Sibling Controls | Siblings related to patients with diagnosis of PTEN Hamartoma Tumor Syndrome Receives: Diagnostic Test: NET | |
| Unrelated Controls | Unrelated participants with no known genetic or neurodevelopmental disorder Receives: Diagnostic Test: NET |
What is being measured
The primary outcome is the main question the study is designed to answer.
Social Communication Interaction
Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition
Measured: Baseline
Social Communication Interaction
Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition
Measured: One month follow up
Social Communication Interaction
Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition
Measured: Four month follow up
Daily Living Skills
Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating.
Measured: Baseline
Daily Living Skills
Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating.
Measured: One month follow up
Daily Living Skills
Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating.
Measured: Four months later
Secondary outcomes (27)
Restrictive and Repetitive Behaviors
Develop survey and rating scales related to content areas for restrictive and repetitive behaviors. Restricted and repetitive behaviors and interests are among the three core symptoms of autism. They include repetitive movements with objects, repeated body movements such as rocking and hand-flapping, ritualistic behavior, sensory sensitivities and circumscribed interests
Measured: Baseline
Restrictive and Repetitive Behaviors
Develop survey and rating scales related to content areas for restrictive and repetitive behaviors. Restricted and repetitive behaviors and interests are among the three core symptoms of autism. They include repetitive movements with objects, repeated body movements such as rocking and hand-flapping, ritualistic behavior, sensory sensitivities and circumscribed interests
Measured: One month follow up
Restrictive and Repetitive Behaviors
Develop survey and rating scales related to content areas for restrictive and repetitive behaviors. Restricted and repetitive behaviors and interests are among the three core symptoms of autism. They include repetitive movements with objects, repeated body movements such as rocking and hand-flapping, ritualistic behavior, sensory sensitivities and circumscribed interests
Measured: Four month follow up
Anxiety
Develop survey questions and scales related to content areas for anxiety. Anxiety is what we feel when we are worried, tense or afraid - particularly about things that are about to happen, or which we think could happen in the future
Measured: Baseline
Anxiety
Develop survey questions and scales related to content areas for anxiety. Anxiety is what we feel when we are worried, tense or afraid - particularly about things that are about to happen, or which we think could happen in the future
Measured: One month follow up
Anxiety
Develop survey questions and scales related to content areas for anxiety. Anxiety is what we feel when we are worried, tense or afraid - particularly about things that are about to happen, or which we think could happen in the future
Measured: Four month follow up
Motor Skills
Develop survey questions and scales related to content areas for motor skills.A motor skill is a function that involves specific movements of the body's muscles to perform a certain task. These tasks could include walking, running, or riding a bike. In order to perform this skill, the body's nervous system, muscles, and brain have
Measured: Baseline
Motor Skills
Develop survey questions and scales related to content areas for motor skills.A motor skill is a function that involves specific movements of the body's muscles to perform a certain task. These tasks could include walking, running, or riding a bike. In order to perform this skill, the body's nervous system, muscles, and brain have
Measured: One month follow up
Motor Skills
Develop survey questions and scales related to content areas for motor skills.A motor skill is a function that involves specific movements of the body's muscles to perform a certain task. These tasks could include walking, running, or riding a bike. In order to perform this skill, the body's nervous system, muscles, and brain have
Measured: Four month follow up
Challenging Behaviors
Develop survey questions and rating scales related to content areas for challenging behaviors.A person's behaviour can be defined as "challenging" if it puts them or those around them (such as their carer) at risk, or leads to a poorer quality of life. It can also impact their ability to join in everyday activities. Challenging behaviour can include: aggression. self-harm.
Measured: Baseline
Challenging Behaviors
Develop survey questions and rating scales related to content areas for challenging behaviors.A person's behaviour can be defined as "challenging" if it puts them or those around them (such as their carer) at risk, or leads to a poorer quality of life. It can also impact their ability to join in everyday activities. Challenging behaviour can include: aggression. self-harm.
Measured: One month follow up
Challenging Behaviors
Develop survey questions and rating scales related to content areas for challenging behaviors.A person's behaviour can be defined as "challenging" if it puts them or those around them (such as their carer) at risk, or leads to a poorer quality of life. It can also impact their ability to join in everyday activities. Challenging behaviour can include: aggression. self-harm.
Measured: Four month follow up
ADHD
Develop survey questions and rating scales related to content areas for ADHD. Refers to the ongoing pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development.
Measured: Baseline
ADHD
Develop survey questions and rating scales related to content areas for ADHD. Refers to the ongoing pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development.
Measured: One month follow up
ADHD
Develop survey questions and rating scales related to content areas for ADHD. Refers to the ongoing pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development.
Measured: Four month follow up
Executive Functioning
Develop survey questions and rating scales related to content areas for executive functioning. Executive functioning and self-regulation skills are the mental processes that enable us to plan, focus attention, remember instructions, and juggle multiple tasks successfully.
Measured: Baseline
Executive Functioning
Develop survey questions and rating scales related to content areas for executive functioning. Executive functioning and self-regulation skills are the mental processes that enable us to plan, focus attention, remember instructions, and juggle multiple tasks successfully.
Measured: One month follow up
Executive Functioning
Develop survey questions and rating scales related to content areas for executive functioning. Executive functioning and self-regulation skills are the mental processes that enable us to plan, focus attention, remember instructions, and juggle multiple tasks successfully.
Measured: Four month follow up
Mood
Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind.
Measured: Baseline
Mood
Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind.
Measured: One month follow up
Mood
Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind.
Measured: Four month follow up
Quality of Life
Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc.
Measured: Baseline
Quality of Life
Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc.
Measured: One month follow up
Quality of Life
Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc.
Measured: Four month follow up
Sleep
Develop survey questions and rating scales related to content areas for sleep patterns and behaviors.
Measured: Baseline
Sleep
Develop survey questions and rating scales related to content areas for sleep patterns and behaviors.
Measured: One month follow up
Sleep
Develop survey questions and rating scales related to content areas for sleep patterns and behaviors.
Measured: Four month follow up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jan 2023
- Study start9 Sep 2021
- Primary completion1 Jun 2024
- Study completion30 Jun 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PTEN Hamartoma Tumor 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
- 300 participants (actual)
Sponsor and investigators
- Lead sponsor
- John Carroll University
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital Southampton NHS Foundation Trust
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05671107
- Sponsor's protocol ID
- 2021-013
- Other IDs
- JCU-20-001
- Status last verified
- Feb 2024
- First submitted
- 16 Dec 2022
- Last updated
- 19 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Plan to upload deidentified data to Open Science Framework
Study at a glance
From the registry record, last updated by the sponsor on 19 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Hamartoma Tumor Syndrome (PHTS)
- ClinicalTrials.gov ID
- NCT05671107
- Acronym / sponsor ID
- 2021-013
- Conditions
- PTEN Hamartoma Tumor Syndrome
- Keywords
- Neurodevelopmental disorders, PTEN, PHTS, Autism, Online Assessment, Neurobehavioral
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 300 participants (actual)
- Lead sponsor
- John Carroll UniversityUniversity, hospital or other
- Collaborators
- University Hospital Southampton NHS Foundation Trust
- Study start
- 9 Sep 2021 (actual)
- Primary completion
- 1 Jun 2024 (actual)
- Study completion
- 30 Jun 2024 (actual)
- First posted
- 4 Jan 2023 (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 purpose of this study is to develop a survey completed by parents, caregivers, or other informants that evaluates several important domains of functioning relevant to individuals with neurodevelopmental disorders, including autism spectrum disorder and people with genetic syndromes. Participation in this research will include assisting the research team in the development of the survey measures.
Detailed description
With greater understanding of the biology of PTEN Hamartoma Tumor Syndrome (PHTS), including patients with and without neurodevelopmental disorder (NDD) phenotypes, there is potential to develop novel personalized therapeutics. Given the recent observation that many PHTS patients with and without NDD have significant neurobehavioral manifestations, it will be crucial to broadly track a range of neurobehavioral domains as part of future trials. Unfortunately, there are few well-validated measures that would be appropriate for the full range of presentations in the PHTS population. Further, as a rare genetic syndrome, PHTS patients are geographically distributed making frequent data collection during research very difficult. Thus, the overarching aim of this proposal is to develop and validate an online neurobehavioral evaluation tool (NET) with caregiver-report survey scales and patient-completed webcam-collected performance measures that captures key neurobehavioral information. In partnership with patients, caregivers, and scientist-clinician experts, the study will develop, pilot test, and validate NET survey and performance measures. Specifically, at least 240 caregiver-patient pairs will be recruited (patient ages 4-24) from PHTS without NDD, PHTS with NDD, and controls (sibling and unrelated healthy controls). NET data will be collected at baseline, 1-month, and 4-month follow-up. Aim 1 will focus on the development and validation of brief, psychometrically-sound NET survey scales. Aim 2 will conduct group comparisons on NET measures. Aim 3 will use longitudinal data to evaluate short-term stability of NET survey scales and describe neurobehavioral change within and across study groups. The project will also explore the feasibility of performance measure collection, provide initial psychometric evaluation, and conduct a group comparison of performance measures. If the project aims are achieved, and future validation supports research and clinical use, the NET will be an efficient, reliable, valid, co-normed, multi-modal instrument, that, by virtue of online (at-home) administration, will decrease patient and family burden and increase the temporal resolution and power of future longitudinal studies and clinical trials.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| PTEN - with NDD | – | Diagnostic Test: NETPatients diagnosed with PTEN Hamartoma Tumor Syndrome and a neurodevelopmental disorder including but not limited to autism spectrum disorder, attention-deficit disorder / attention-deficit hyperactivity disorder, speech language disorder(s), intellectual disability, global developmental delay, oppositional defiant disorder, and / or motor or developmental disorders. |
| PTEN - without NDD | – | Diagnostic Test: NETPatients diagnosed with PTEN Hamartoma Tumor Syndrome |
| Sibling Controls | – | Diagnostic Test: NETSiblings related to patients with diagnosis of PTEN Hamartoma Tumor Syndrome |
| Unrelated Controls | – | Diagnostic Test: NETUnrelated participants with no known genetic or neurodevelopmental disorder |
Who may qualify
- Ages
- 3 to 45 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Community sample
Key inclusion criteria (6 listed)
- Has a PTEN Hamartoma Tumor Syndrome diagnosis with or without a neurodevelopment disorder
- Access to a tablet (10+ inch screen), laptop, or desktop computer
- Access to reliable internet
- Able to attend to short videos (30 plus seconds)
- Able to hear audio from a computer device
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NETOnline survey measuring a variety of developmental domains including anxiety, motor, daily living skills, challenging behaviors, social communication, restrictive and repetitive behaviors, ADHD, executive functioning, mood, quality of life, and sleep | Diagnostic test | PTEN - with NDD, PTEN - without NDD, Sibling Controls, Unrelated Controls |
Primary outcome
Social Communication Interaction
Time frame: Baseline
Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition
Social Communication Interaction
Time frame: One month follow up
Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition
Social Communication Interaction
Time frame: Four month follow up
Develop survey questions and scales related content areas for Social Communication Interactions. Social communication refers to the emergence of verbal and nonverbal skills, social interaction, and social cognition
Daily Living Skills
Time frame: Baseline
Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating.
Daily Living Skills
Time frame: One month follow up
Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating.
Daily Living Skills
Time frame: Four months later
Develop questions and survey scales related to content areas of activities of daily living. Activities of daily living are activities related to personal care. They include bathing or showering, dressing, getting in and out of bed or a chair, walking, using the toilet, and eating.
27 secondary outcomes
Restrictive and Repetitive Behaviors
Time frame: Baseline
Restrictive and Repetitive Behaviors
Time frame: One month follow up
Restrictive and Repetitive Behaviors
Time frame: Four month follow up
Anxiety
Time frame: Baseline
Anxiety
Time frame: One month follow up
Anxiety
Time frame: Four month follow up
Motor Skills
Time frame: Baseline
Motor Skills
Time frame: One month follow up
Motor Skills
Time frame: Four month follow up
Challenging Behaviors
Time frame: Baseline
Challenging Behaviors
Time frame: One month follow up
Challenging Behaviors
Time frame: Four month follow up
ADHD
Time frame: Baseline
ADHD
Time frame: One month follow up
ADHD
Time frame: Four month follow up
Executive Functioning
Time frame: Baseline
Executive Functioning
Time frame: One month follow up
Executive Functioning
Time frame: Four month follow up
Mood
Time frame: Baseline
Mood
Time frame: One month follow up
Mood
Time frame: Four month follow up
Quality of Life
Time frame: Baseline
Quality of Life
Time frame: One month follow up
Quality of Life
Time frame: Four month follow up
Sleep
Time frame: Baseline
Sleep
Time frame: One month follow up
Sleep
Time frame: Four month follow up
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 19 Sep 2024.
- Individual participant dataSharing planned: Yes. Plan to upload deidentified data to Open Science Framework
Related trials for PTEN Hamartoma Tumor Syndrome
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Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
PTEN, ASD
RecruitingObservational study
Familial Investigations of Childhood Cancer Predisposition
Acute Leukemia, Adenomatous Polyposis
Not yet recruitingPhase 2/3
Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations
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RecruitingObservational study
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PTEN Hamartoma Syndrome
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.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PTEN Hamartoma Tumor Syndrome, run by John Carroll University at 2 sites in 2 countries.
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 6 inclusion and 0 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: finished, as of the sponsor's last update on 19 Sep 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, United Kingdom. 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?
Social Communication Interaction (time frame: Baseline). The study lists 6 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 19 Sep 2024.