NCT04702243

Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 436 (actual)
• Sponsor: University of North Carolina, Chapel Hill · Academic / Other
• Sex: All
• Age: 5 Years – 45 Years
• Healthy volunteers: Not accepted

Summary

The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).

Detailed description

This protocol utilizes a cross-sectional study design. Over a 5-year period, the investigators will enroll patients who have clinical and lab features characteristic of a PID disorder or PCD, but do not have a confirmed genetic diagnosis. Innovative, standardized methods (SOPs) will be utilized, including ciliary ultrastructural analyses by transmission electron microscopy (TEM), as pertinent. Measures of nasal nitric oxide (nNO) will be performed in all subjects to allow comparisons of nNO values in PID vs. PCD. Patients with high likelihood of a PID disorder or a high likelihood of PCD will initially undergo research genetic testing on a commercial approved panel for PID disorders or a panel of at least 37 PCD genes. All subjects who do not have a genetic diagnosis from the test panels will undergo whole exome sequencing (WES) to search for novel genetic etiologies for PID or PCD.

Conditions

• Primary Ciliary Dyskinesia
• Primary Immune Deficiency
• Kartagener Syndrome

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Genetic Testing for PCD or PID	Patients with high likelihood of a PID disorder or a high likelihood of PCD will initially undergo research genetic testing on a commercial approved panel for PID disorders or a panel of at least 37 PCD genes.
OTHER	Unaffected Family Member Genetic Testing	Unaffected family members will undergo genetic testing if genetic findings are identified in their affected family member.

Timeline

• Start date: 2020-12-01
• Primary completion: 2025-08-06
• Completion: 2025-08-06
• First posted: 2021-01-08
• Last updated: 2025-08-21

Locations

8 sites across 2 countries: United States, Canada