KPTN Loss and Megalencephaly: mTOR Activation as Therapeutic Target
Funded at University of Maryland Baltimore · NIH-11496107 · Data updated 2026-11-12
This research aims to understand how KPTN mutations contribute to brain overgrowth and epilepsy, with the goal of identifying targeted treatments for affected individuals.
Quick facts
| Grant type | R37 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | January 1, 2022 |
| Project end | December 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $51,018 |
| NIH project number | 3R37NS125632-05S1 |
| Project ID | NIH-11496107 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with KPTN-related Megalencephaly syndrome or related mTOR pathway disorders, including children and young adults with ASD and seizures.
✕Less likely to help
Patients without a KPTN-related diagnosis or without mTOR pathway involvement may not benefit from this research.
What this research studies
This project focuses on a genetic syndrome where loss of KPTN function leads to megalencephaly, autism, intellectual disability, and seizures. By studying how the mTOR pathway is altered in this condition, researchers hope to uncover why the brain grows abnormally and why seizures are hard to control. The work involves analyzing patient-derived data and biological samples to map the mTOR signaling changes and test potential therapies that could normalize brain growth and reduce seizures. If successful, the findings could inform precision treatment approaches for affected patients and related mTOR-related disorders.
Why it matters
Potential benefit: Potentially more effective, targeted therapies for Megalencephaly and associated epilepsy and neurodevelopmental delays.
How similar studies have gone: Prior work has linked KPTN and other mTOR pathway genes to Megalencephaly syndromes, with ongoing exploration of targeted therapies.
Where this research is happening
-
University of Maryland Baltimore
Baltimore, United States Active
Researchers
- Principal investigator: Crino, Peter B — University of Maryland Baltimore
- Study coordinator: Crino, Peter B
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.