We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 5 of 11 for:    frazier, thomas

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05671107
Recruitment Status : Recruiting
First Posted : January 4, 2023
Last Update Posted : January 4, 2023
Sponsor:
Information provided by (Responsible Party):
John Carroll University

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.

Layout table for study information
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

Resource links provided by the National Library of Medicine


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




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.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05671107


Contacts
Layout table for location contacts
Contact: Thomas Frazier, PhD 216-397-1530 tfrazier@jcu.edu
Contact: Katie Huba, MS 412-298-8749 khuba@jcu.edu

Locations
Layout table for location information
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
Layout table for additonal 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    Key Record Dates
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/

Layout table for additional information
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:
Layout table for MeSH terms
Hamartoma
Neoplasms
Hamartoma Syndrome, Multiple
Syndrome
Disease
Pathologic Processes
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn