Better tests and trial-preparedness for brain and behavior problems linked to PTEN gene changes
Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variants
This project is creating better tests and tools to understand and track thinking, behavior, sleep, and sensory problems in children and adults with PTEN gene changes so they can join future treatment trials.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11173361 on NIH RePORTER |
What this research studies
You would be asked to complete detailed tests of thinking, behavior, sleep, and sensory responses and may provide clinical and neurophysiological data over time. The team will develop and validate multimodal assessment protocols designed to work well for people with intellectual disabilities and a range of ages. They will link clinical symptoms to brain markers and standardize outcome measures using prior trial experience and longitudinal data. The goal is to make it easier and more reliable to run future treatment trials for people with PTEN-related neuropsychiatric issues.
Who could benefit from this research
Good fit: Ideal participants are children and adults with known pathogenic PTEN variants (PHTS), especially those with autism, developmental delays, macrocephaly, sleep or sensory difficulties, and families willing to attend follow-up visits.
Not a fit: People without PTEN pathogenic variants or whose issues are only non-neuropsychiatric (for example, isolated physical findings without cognitive or behavioral concerns) are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could allow more accurate tracking of symptoms and faster, safer testing of targeted therapies for PTEN-related behavioral and cognitive problems.
How similar studies have performed: The team has previously completed a randomized trial of everolimus and reported preliminary biomarker links, showing promise but also a clear need for better, validated measures in this population.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Hardan, Antonio — Boston Children's Hospital
- Study coordinator: Hardan, Antonio
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.