Targeting mTOR for KPTN-related enlarged brain and seizures
KPTN Loss and Megalencephaly: mTOR Activation as Therapeutic Target
['FUNDING_R37'] · UNIVERSITY OF MARYLAND BALTIMORE · NIH-11417029
Trying mTOR-blocking approaches for people with KPTN-related enlarged heads, developmental delay, autism, and hard-to-control seizures.
Quick facts
| Phase | ['FUNDING_R37'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MARYLAND BALTIMORE (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-11417029 on ClinicalTrials.gov |
What this research studies
This project focuses on people with KPTN gene loss that causes enlarged head growth (megalencephaly), developmental delays, autism, and seizures that are often hard to treat. Researchers will study patient data and laboratory models to understand how loss of KPTN turns on the mTOR growth pathway. They will test whether drugs that block mTOR can reverse the molecular and structural brain changes seen with KPTN loss. The work may include genetic testing, head-size tracking, analysis of patient samples, and lab drug testing to connect bench findings to patient symptoms.
Who could benefit from this research
Good fit: People of any age with confirmed pathogenic KPTN (kaptin) loss-of-function variants and clinical features such as megalencephaly and refractory seizures would be the best candidates.
Not a fit: People without KPTN mutations or whose condition is not driven by mTOR activation are unlikely to benefit from mTOR-targeted approaches in this project.
Why it matters
Potential benefit: If successful, this work could point to treatments that reduce brain overgrowth and help control seizures and developmental problems in people with KPTN-related disease.
How similar studies have performed: Drugs that block mTOR have shown benefit in other mTOR-related disorders (for example tuberous sclerosis), but applying these approaches specifically to KPTN-related megalencephaly is a newer, less-tested area.
Where this research is happening
BALTIMORE, UNITED STATES
- 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 below.