Genetic testing and specialist care for rare causes of chronic lung, sinus, and ear infections
Use of Tiered Genetic Sequencing and Specialty Referral for Identifying and Managing Rare Genetic Causes of Chronic Suppurative Respiratory Disease
['FUNDING_U01'] · UNIV OF NORTH CAROLINA CHAPEL HILL · NIH-11472359
This project offers stepwise genetic testing and specialty referrals to find rare inherited causes of recurring lung, sinus, and ear infections in children and adults.
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-11472359 on ClinicalTrials.gov |
What this research studies
If you or your child have repeated ear infections, sinus infections, bronchitis, or bronchiectasis, clinicians will use a stepwise approach that starts with targeted genetic tests and moves to whole genome sequencing when needed. The team combines ciliary disease experts and immune disease specialists to review results and recommend tailored follow-up and treatments. They will collect clinical information and biological samples as needed to look for inborn errors of immunity or disorders of mucociliary clearance. The goal is to connect people with the right diagnosis and specialty care to reduce infections and protect lung function.
Who could benefit from this research
Good fit: Children and adults with chronic or recurrent ear, sinus, or lower respiratory infections, bronchiectasis, or unexplained severe infections without a confirmed genetic diagnosis.
Not a fit: People whose infections are clearly caused by non-genetic factors, who already have a definitive diagnosis, or who cannot provide consent or samples are unlikely to benefit.
Why it matters
Potential benefit: Earlier and more precise genetic diagnoses could lead to personalized management that prevents recurring infections and limits long-term lung damage.
How similar studies have performed: Prior work by the Genetic Disorders of Mucociliary Clearance Consortium and related immune programs has successfully identified many disease genes and improved diagnoses, and this project builds on those proven approaches.
Where this research is happening
CHAPEL HILL, UNITED STATES
- UNIV OF NORTH CAROLINA CHAPEL HILL — CHAPEL HILL, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: OLIVIER, KENNETH N. — UNIV OF NORTH CAROLINA CHAPEL HILL
- Study coordinator: OLIVIER, KENNETH N.
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.