Understanding a genetic cause of severe congenital neutropenia
Official title: Pathobiology of VPS45 severe congenital neutropenia
Funded at Univ of Massachusetts Med Sch Worcester · NIH-10767281 · Data updated 2026-11-12
This study is looking at how changes in a protein called VPS45 can cause severe congenital neutropenia, a condition that makes it hard for your body to fight infections, and it's for anyone interested in understanding more about this disease and finding new ways to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | February 7, 2020 |
| Project end | January 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $670,974 |
| NIH project number | 5R01AI152446-05 |
| Project ID | NIH-10767281 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with severe congenital neutropenia, particularly those with VPS45 mutations.
✕Less likely to help
Patients with neutropenia caused by factors unrelated to VPS45 mutations may not benefit from this research.
What this research studies
This research investigates how mutations in the VPS45 protein lead to severe congenital neutropenia, a condition where the body does not produce enough neutrophils, which are crucial for fighting infections. The researchers are using both laboratory and animal models to study the biochemical processes affected by these mutations, focusing on how they disrupt the normal functioning of neutrophils and platelets. By analyzing these processes, the team aims to uncover the underlying mechanisms of the disease and potentially identify new therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients with severe congenital neutropenia, enhancing their ability to fight infections.
How similar studies have gone: Previous research has shown promising results in understanding similar genetic causes of congenital disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Newburger, Peter E — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Newburger, Peter E
Related research
Other NIH-funded projects on the same topics.
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Severe Chronic Neutropenia Registry for Patients
A patient-facing registry that tracks severe chronic low neutrophil counts to improve understanding and care for people with this condition.
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Severe Chronic Neutropenia Registry to Improve Care
A patient-focused registry gathers information from adults with severe chronic neutropenia to better understand infections, treatments, and outcomes over time.
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Severe Chronic Neutropenia Registry: Finding Better Ways to Prevent Infections
A patient-focused registry at a leading hospital helps people with severe chronic neutropenia learn how the condition progresses and how treatments work over time.
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Stimulant that grows donor stem cells in the body to speed neutropenia recovery after chemotherapy and stem cell transplant
A drug given during or right before stem cell transplant helps donor stem cells multiply quickly inside the patient to shorten neutropenia after treatment.
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Stimulant to grow stem cells in the body to speed recovery after chemotherapy and stem cell transplant
A new drug given briefly before transplant aims to help patients recover their blood and immune system faster after chemotherapy or stem cell transplant.
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PointCheck: a home-based, non-invasive neutropenia monitor for chemotherapy patients
A portable, non-invasive device helps cancer patients on chemotherapy monitor neutropenia from home so doctors can prevent serious infections.
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.