Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients

• ClinicalTrials.gov Identifier: NCT05671107
• Recruitment Status: Recruiting
• First Posted: January 4, 2023
• Last Update Posted: January 4, 2023
• Sponsor: John Carroll University
• Information provided by (Responsible Party): John Carroll University

Study Description

Brief 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. Participation in this research will include assisting the research team in the development of the survey measures.

Condition or disease	Intervention/treatment
PTEN Hamartoma Tumor Syndrome	Diagnostic Test: NET

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

• Study Type: Observational
• Estimated Enrollment: 300 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Hamartoma Tumor Syndrome (PHTS)
• Actual Study Start Date: September 9, 2021
• Estimated Primary Completion Date: December 31, 2023
• Estimated Study Completion Date: December 31, 2023

Groups and Cohorts

Group/Cohort	Intervention/treatment
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.	Diagnostic Test: NET; 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
PTEN - without NDD; Patients diagnosed with PTEN Hamartoma Tumor Syndrome	Diagnostic Test: NET; 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
Sibling Controls; Siblings related to patients with diagnosis of PTEN Hamartoma Tumor Syndrome	Diagnostic Test: NET; 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
Unrelated Controls; Unrelated participants with no known genetic or neurodevelopmental disorder	Diagnostic Test: NET; 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

Outcome Measures

Primary Outcome Measures :

1. 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
2. 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
3. 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
4. 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.
5. 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.
6. 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.

Secondary Outcome Measures :

1. Restrictive and Repetitive Behaviors [ Time Frame: Baseline ]
   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
2. Restrictive and Repetitive Behaviors [ Time Frame: One month follow up ]
   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
3. Restrictive and Repetitive Behaviors [ Time Frame: Four month follow up ]
   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
4. Anxiety [ Time Frame: Baseline ]
   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
5. Anxiety [ Time Frame: One month follow up ]
   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
6. Anxiety [ Time Frame: Four month follow up ]
   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
7. Motor Skills [ Time Frame: Baseline ]
   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
8. Motor Skills [ Time Frame: One month follow up ]
   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
9. Motor Skills [ Time Frame: Four month follow up ]
   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
10. Challenging Behaviors [ Time Frame: Baseline ]
    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.
11. Challenging Behaviors [ Time Frame: One month follow up ]
    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.
12. Challenging Behaviors [ Time Frame: Four month follow up ]
    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.
13. ADHD [ Time Frame: Baseline ]
    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.
14. ADHD [ Time Frame: One month follow up ]
    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.
15. ADHD [ Time Frame: Four month follow up ]
    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.
16. Executive Functioning [ Time Frame: Baseline ]
    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.
17. Executive Functioning [ Time Frame: One month follow up ]
    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.
18. Executive Functioning [ Time Frame: Four month follow up ]
    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.
19. Mood [ Time Frame: Baseline ]
    Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind.
20. Mood [ Time Frame: One month follow up ]
    Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind.
21. Mood [ Time Frame: Four month follow up ]
    Develop survey questions and rating scales related to content areas for mood. Focusing on particular feelings or a state of mind.
22. Quality of Life [ Time Frame: Baseline ]
    Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc.
23. Quality of Life [ Time Frame: One month follow up ]
    Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc.
24. Quality of Life [ Time Frame: Four month follow up ]
    Develop survey questions and rating scales related to content areas for quality of life including family, financial, etc.
25. Sleep [ Time Frame: Baseline ]
    Develop survey questions and rating scales related to content areas for sleep patterns and behaviors.
26. Sleep [ Time Frame: One month follow up ]
    Develop survey questions and rating scales related to content areas for sleep patterns and behaviors.
27. Sleep [ Time Frame: Four month follow up ]
    Develop survey questions and rating scales related to content areas for sleep patterns and behaviors.

Eligibility Criteria

• Ages Eligible for Study: 3 Years to 45 Years (Child, Adult)
• Sexes Eligible for Study: All
• Sampling Method: Non-Probability Sample

Study Population

Community sample

Criteria

Inclusion Criteria:

• 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

Contacts and Locations

Contacts

Contact: Thomas Frazier, PhD; 216-397-1530; tfrazier@jcu.edu

Contact: Katie Huba, MS; 412-298-8749; khuba@jcu.edu

Locations

United States, Ohio

John Carroll Univeristy; Recruiting

University Heights, Ohio, United States, 44118

Contact: Carol Moran Krus, MS 216-397-1527 irb@jcu.edu

Principal Investigator: Thomas Frazier, PhD

Sponsors and Collaborators

John Carroll University

More Information

• Responsible Party: John Carroll University
• ClinicalTrials.gov Identifier: NCT05671107
• Other Study ID Numbers: 2021-013; JCU-20-001 ( Other Grant/Funding Number: PTEN Research Foundation )
• First Posted: January 4, 2023
• Last Update Posted: January 4, 2023
• Last Verified: December 2022

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: Yes
• Plan Description: Plan to upload deidentified data to Open Science Framework
• Supporting Materials: Clinical Study Report (CSR)
• Time Frame: Within one year of study completion
• URL: https://osf.io/cguzs/

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by John Carroll University:

Neurodevelopmental disorders; PTEN; PHTS; Autism; Online Assessment; Neurobehavioral

Additional relevant MeSH terms:

Hamartoma; Neoplasms; Hamartoma Syndrome, Multiple; Syndrome; Disease; Pathologic Processes; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn