Understanding how genetic changes in PIK3CA cause venous malformations
Molecular Mechanisms Regulating PIK3CA-induced Venous Malformations
['FUNDING_R01'] · ALBANY MEDICAL COLLEGE · NIH-10857352
This study is looking into how changes in a specific gene can lead to problems with blood vessel growth in people with venous malformations, and it hopes to find new, non-surgical treatments to help those affected.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ALBANY MEDICAL COLLEGE (nih funded) |
| Locations | 1 site (ALBANY, UNITED STATES) |
| Trial ID | NIH-10857352 on ClinicalTrials.gov |
What this research studies
This research investigates the molecular mechanisms behind venous malformations caused by mutations in the PIK3CA gene. By using both laboratory models and animal studies, the team aims to uncover how these mutations disrupt normal blood vessel development. The focus is on a specific protein, RHEB, which may play a key role in this process. The ultimate goal is to identify new, non-surgical treatment options for patients suffering from these vascular conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with venous malformations linked to PIK3CA mutations.
Not a fit: Patients without PIK3CA mutations or those with other types of vascular malformations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to innovative treatments that improve the quality of life for patients with venous malformations.
How similar studies have performed: Previous research has shown promising results in understanding vascular malformations through genetic studies, indicating potential for success in this area.
Where this research is happening
ALBANY, UNITED STATES
- ALBANY MEDICAL COLLEGE — ALBANY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PUMIGLIA, KEVIN M — ALBANY MEDICAL COLLEGE
- Study coordinator: PUMIGLIA, KEVIN M
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.