Understanding variations in Neurofibromatosis type 1 to improve risk and care
Official title: Modeling neurofibromatosis-1 disease heterogeneity to optimize risk assessment and treatment
Funded at Washington University · NIH-11327379 · Data updated 2026-11-12
This project uses genetic, cellular, and computer models to learn why Neurofibromatosis type 1 causes different problems in different people and to guide better care for children and adults with NF1.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | May 2, 2025 |
| Project end | April 30, 2033 |
| Funding year | 2026 |
| Award (this year) | $869,826 |
| NIH project number | 5R35NS142919-02 |
| Project ID | NIH-11327379 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and adults diagnosed with Neurofibromatosis type 1, especially those with or at risk for low-grade brain tumors or neurodevelopmental issues, would be most relevant to this work.
✕Less likely to help
People without NF1 or patients seeking immediate clinical treatment changes should not expect direct or immediate benefit from this research.
What this research studies
Researchers will combine genetic data, laboratory models (including CRISPR-modified cells and animal models), and computational bioinformatics to map how different NF1 mutations and cell interactions drive symptoms. The work will focus on brain-related problems in NF1, such as low-grade gliomas and neurodevelopmental issues in children and adults. Teams will test how different therapies affect tumor and brain cell behavior in models to understand variable treatment responses. The ultimate aim is to use these insights to personalize monitoring and therapy based on each person’s biology.
Why it matters
Potential benefit: If successful, this work could help predict who with NF1 is most likely to develop tumors or learning problems and point to more effective, individualized treatments.
How similar studies have gone: Related efforts using genetics, model systems, and computational prediction have helped identify treatment targets in NF1 and led to successes with some targeted drugs (for example MEK inhibitors), but responses have been variable and incomplete.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Gutmann, David H — Washington University
- Study coordinator: Gutmann, David H
Related research
Other NIH-funded projects on the same topics.
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Understanding the varied effects of neurofibromatosis type 1 to improve treatment and risk assessment
This study is looking at neurofibromatosis type 1 (NF1) to understand how different genes and other factors affect the symptoms people experience, so we can create better, personalized treatments just for you.
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Online program providing personalized NF1 care letters plus videos or peer navigator support for adults with low health literacy
This study will test whether giving adults with NF1 and low health literacy personalized care letters plus either short, plain-language videos or a call with a trained peer navigator helps them better understand NF1 symptoms and care before their primary care visit.
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Understanding genetic causes of neuroendocrine tumors in Mexican patients
This study is trying to find out the genetic changes that cause neuroendocrine tumors in Mexican patients to help develop better treatments.
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Combination therapy to shrink plexiform neurofibromas in NF1 patients
This trial tests whether the drugs cabozantinib and selumetinib can be safely given together to see if they help shrink progressive or painful plexiform neurofibromas in adolescents and adults with NF1.
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Study on the use of Koselugo for treating Neurofibromatosis 1
This study is testing how well Koselugo works and how safe it is for people with Neurofibromatosis 1 in everyday treatment settings in South Korea.
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Monitoring for cancer risk in neurofibromatosis type 1 tumors
This study is trying to find out which harmless tumors in people with neurofibromatosis type 1 might turn into cancer so that doctors can better monitor patients at risk.
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.