Clinical trial NCT05671107: Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients
Official title: Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Hamartoma Tumor Syndrome (PHTS)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: PTEN Hamartoma Tumor Syndrome
Keywords: Neurodevelopmental disorders
PTEN
PHTS
Autism
Online Assessment
Neurobehavioral
Lead sponsor: John Carroll University
Sponsor class: OTHER
Collaborators: name: University Hospital Southampton NHS Foundation Trust
First posted: 2023-01-04
Enrollment: 300
Sex: ALL
Minimum age (years): 3
Maximum age (years): 45
Standard ages: CHILD
ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Community sample

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.

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.

Eligibility 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

Primary outcomes:
measure: Social Communication Interaction
timeFrame: Baseline
measure: Social Communication Interaction
timeFrame: One month follow up
measure: Social Communication Interaction
timeFrame: Four month follow up
measure: Daily Living Skills
timeFrame: Baseline
measure: Daily Living Skills
timeFrame: One month follow up
measure: Daily Living Skills
timeFrame: Four months later
Secondary outcomes:
measure: Restrictive and Repetitive Behaviors
timeFrame: Baseline
measure: Restrictive and Repetitive Behaviors
timeFrame: One month follow up
measure: Restrictive and Repetitive Behaviors
timeFrame: Four month follow up
measure: Anxiety
timeFrame: Baseline
measure: Anxiety
timeFrame: One month follow up
measure: Anxiety
timeFrame: Four month follow up
measure: Motor Skills
timeFrame: Baseline
measure: Motor Skills
timeFrame: One month follow up
measure: Motor Skills
timeFrame: Four month follow up
measure: Challenging Behaviors
timeFrame: Baseline
measure: Challenging Behaviors
timeFrame: One month follow up
measure: Challenging Behaviors
timeFrame: Four month follow up
measure: ADHD
timeFrame: Baseline
measure: ADHD
timeFrame: One month follow up
measure: ADHD
timeFrame: Four month follow up
measure: Executive Functioning
timeFrame: Baseline
measure: Executive Functioning
timeFrame: One month follow up
measure: Executive Functioning
timeFrame: Four month follow up
measure: Mood
timeFrame: Baseline
measure: Mood
timeFrame: One month follow up
measure: Mood
timeFrame: Four month follow up
measure: Quality of Life
timeFrame: Baseline
measure: Quality of Life
timeFrame: One month follow up
measure: Quality of Life
timeFrame: Four month follow up
measure: Sleep
timeFrame: Baseline
measure: Sleep
timeFrame: One month follow up
measure: Sleep
timeFrame: Four month follow up
Other outcomes:
Locations:
city: University Heights
country: United States
facility: John Carroll Univeristy
state: Ohio
city: Hampton
country: United Kingdom
facility: University Hospital South Hampton
state: Southampton
Study officials:
References: