Tiered genetic testing and specialist referrals for rare causes of chronic ear, sinus, and lung 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-11257668
This project offers stepwise genetic testing and specialist referrals to find rare inherited causes of persistent ear, sinus, and lung 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-11257668 on ClinicalTrials.gov |
What this research studies
If I join, clinicians will collect clinical history and start with targeted genetic panels, moving to whole genome sequencing when initial tests are inconclusive. My samples and clinical information would be reviewed by experts in primary ciliary dyskinesia (PCD) and inborn errors of immunity (IEI) across a consortium. If a genetic cause is found, the team will arrange specialty referrals for immune evaluation or airway management and suggest more specific prevention or treatment plans. The program builds on prior consortium work that discovered many PCD genes and aims to shorten the time to an accurate diagnosis.
Who could benefit from this research
Good fit: Ideal candidates are children and adults with persistent or recurrent otitis media, sinusitis, bronchitis, or bronchiectasis that suggest an underlying genetic cause.
Not a fit: People whose infections are clearly due to non-genetic causes or who already have a confirmed diagnosis unrelated to PCD or IEI may not benefit.
Why it matters
Potential benefit: A confirmed genetic diagnosis could lead to tailored treatments or preventive strategies that reduce infections and long-term lung damage.
How similar studies have performed: Previous work by the consortium successfully discovered over 50 genes linked to primary ciliary dyskinesia and has shown genetic testing can reveal immune disorders in similar patients.
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.