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

Primary Ciliary Dyskinesia Clinical Trial

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

Status Recruiting

Clinical Trial 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).

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Ciliary Motility Disorders
• Dyskinesias
• Immunologic Deficiency Syndromes
• Kartagener Syndrome
• Lung Diseases
• Primary Ciliary Dyskinesia
• Primary Immune Deficiency
• Primary Immunodeficiency Diseases

• NCT number: NCT04702243
• Study type: Observational
• Source: University of North Carolina, Chapel Hill
• Contact: Kelli Sullivan, MPH
• Phone: 919-962-9786
• Email: kelli_sullivan@med.unc.edu
• Status: Recruiting
• Start date: December 1, 2020
• Completion date: July 31, 2024