Protein balance problems in lymphatic and venous malformations
Protein homeostasis dysfunction in LM and VM pathobiology and therapeutic responses
Trying whether drugs that block the cell's protein-breakdown machinery can help people with lymphatic or venous malformations linked to PI3K or RAS mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11238957 on NIH RePORTER |
What this research studies
Researchers found that cells from lymphatic and venous malformations build up proteins that should be broken down, which alters how vessel cells stick together and behave. The team will study patient-derived malformation cells and animal models to understand how this protein homeostasis problem drives disease. They will test proteasome inhibitor drugs that in lab tests preferentially target these abnormal cells to see if they slow growth and restore normal cell function. The goal is to discover biologically targeted medicines that could be developed into treatments for people with LMs and VMs.
Who could benefit from this research
Good fit: People with lymphatic malformations (LMs) or venous malformations (VMs), especially those whose lesions have PI3K or RAS pathway mutations, are the primary candidates for this line of research.
Not a fit: Patients whose malformations are caused by unrelated mechanisms or who have conditions not driven by protein homeostasis defects may not benefit from these therapies.
Why it matters
Potential benefit: If successful, this work could lead to new targeted drugs that shrink or control lymphatic and venous malformations and reduce related bleeding, swelling, and other complications.
How similar studies have performed: Early laboratory studies have shown that proteasome inhibitors can preferentially target malformation-derived cells, but clinical use for LMs/VMs is novel and not yet proven.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Shawber, Carrie J — Columbia University Health Sciences
- Study coordinator: Shawber, Carrie J
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.