Investigating the role of mTOR activation in treating megalencephaly and related conditions.
KPTN Loss and Megalencephaly: mTOR Activation as Therapeutic Target
This study is looking at how changes in the KPTN gene might be linked to megalencephaly and autism, and it aims to find new ways to help manage symptoms like seizures and developmental delays for those affected.
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 ID | NIH-11000273 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the KPTN gene, which is part of the mTOR pathway, contribute to conditions like megalencephaly and autism. By studying these genetic mutations, the research aims to explore potential therapeutic targets that could help manage symptoms associated with these conditions, such as seizures and developmental delays. Patients will be monitored through neuroimaging and other assessments to evaluate the effectiveness of mTOR activation as a treatment strategy. The study involves collaboration with affected communities to gather comprehensive data on the neurological impacts of these mutations.
Who could benefit from this research
Good fit: Ideal candidates for participation include individuals diagnosed with megalencephaly, autism spectrum disorder, or related conditions, particularly those with identified KPTN mutations.
Not a fit: Patients without mutations in the KPTN gene or those not affected by megalencephaly or autism spectrum disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatment options for children and adults with megalencephaly and related neurological disorders.
How similar studies have performed: Previous research has shown promising results in targeting the mTOR pathway for similar neurological conditions, indicating potential for success in this approach.
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.