Investigating how a genetic mutation affects lung function in a rare immune disorder.
The molecular and cellular mechanisms of the STAT3 mutation-mediated pulmonary disorder in Autosomal Dominant Hyper IgE Syndrome (AD-HIES)
['FUNDING_U01'] · UNIV OF NORTH CAROLINA CHAPEL HILL · NIH-11045066
This study is looking at how a genetic condition called Autosomal Dominant Hyper IgE Syndrome affects mucus in the lungs, which can lead to infections, and it's for people with this condition to help find new ways to improve their lung health.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF NORTH CAROLINA CHAPEL HILL (nih funded) |
| Locations | 1 site (CHAPEL HILL, UNITED STATES) |
| Trial ID | NIH-11045066 on ClinicalTrials.gov |
What this research studies
This research focuses on Autosomal Dominant Hyper IgE Syndrome (AD-HIES), a rare genetic condition that leads to high levels of IgE and recurrent lung infections due to mutations in the STAT3 gene. The study aims to understand how these mutations disrupt normal mucus clearance in the lungs, which can cause chronic inflammation and infections. By examining the properties of airway mucus and the function of specific proteins involved in mucus regulation, the research seeks to identify potential therapeutic targets. Patients will be evaluated through various tests to measure mucus properties and lung function.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Autosomal Dominant Hyper IgE Syndrome who experience recurrent pulmonary infections.
Not a fit: Patients without a diagnosis of AD-HIES or those who do not experience significant lung issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for lung infections and better management of symptoms in patients with AD-HIES.
How similar studies have performed: Previous research on similar genetic mutations and their impact on lung function has shown promising results, indicating that this approach could yield valuable insights.
Where this research is happening
CHAPEL HILL, UNITED STATES
- UNIV OF NORTH CAROLINA CHAPEL HILL — CHAPEL HILL, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BOUCHER, RICHARD CHARLES — UNIV OF NORTH CAROLINA CHAPEL HILL
- Study coordinator: BOUCHER, RICHARD CHARLES
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.
Conditions: bacteria infection, bacterial disease, Bacterial Infections