Understanding how mutations in the CLPB gene affect blood cell development
Mechanistic links between mutations in the CLPB gene and congenital neutropenia
['FUNDING_R21'] · KANSAS STATE UNIVERSITY · NIH-10630259
This study is looking at how changes in the CLPB gene can cause congenital neutropenia, a condition that makes it hard for your body to make white blood cells, which are important for fighting infections, and the researchers hope to find ways to help people with this condition feel better.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | KANSAS STATE UNIVERSITY (nih funded) |
| Locations | 1 site (MANHATTAN, UNITED STATES) |
| Trial ID | NIH-10630259 on ClinicalTrials.gov |
What this research studies
This research investigates the role of the CLPB gene in congenital neutropenia, a serious condition that affects the body's ability to produce white blood cells. The researchers will explore how mutations in this gene disrupt normal cell function and lead to severe health issues, including life-threatening infections. By using cell line models, they aim to understand the molecular mechanisms involved in neutrophil differentiation and how these processes are altered by genetic mutations. This could provide insights into potential therapeutic approaches for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with congenital neutropenia, particularly those with known mutations in the CLPB gene.
Not a fit: Patients without congenital neutropenia or those whose condition is not linked to mutations in the CLPB gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with congenital neutropenia.
How similar studies have performed: While the specific approach of this research is novel, similar studies have shown promise in understanding genetic causes of blood disorders.
Where this research is happening
MANHATTAN, UNITED STATES
- KANSAS STATE UNIVERSITY — MANHATTAN, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ZOLKIEWSKA, ANNA — KANSAS STATE UNIVERSITY
- Study coordinator: ZOLKIEWSKA, ANNA
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.