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

Completed

Conditions studied: Primary Ciliary Dyskinesia, Primary Immune Deficiency, Kartagener Syndrome

In brief

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).

Key facts

Study ID

NCT04702243

Run by

University of North Carolina, Chapel Hill

People needed

436

Starts

2020-12-01

Expected to finish

2025-08-06

Last updated by the study team

2025-08-21

Who can join

Age: 5 and older, up to 45. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• General Criteria
• Age 5-45 years
• Male and Female Subjects
• All races and ethnicities
• Major Clinical Criteria
• Bronchiectasis in > 1 lobe
• Minor Clinical Criteria, Lung
• Neonatal respiratory distress (in term neonates with O2 requirement)
• Chronic wet cough (year-round for at least 12 months)
• Recurrent episodes of bacterial bronchitis
• Recurrent pneumonia (confirmed on chest x-ray)
• Respiratory non-tuberculous mycobacteria (NTM) (documented respiratory NTM culture)
• Minor Clinical Criteria, Other
• Chronic nasal congestion
• Recurrent/chronic paranasal sinusitis
• Ongoing middle-ear disease and/or tympanostomy tube placement at age ≥ 4 years
• Organ laterality defect
• Low nasal nitric oxide (< 77 nL/min) (by plateau measurement)
• Confirmed family history of PID or PCD

You may not qualify if…

• Anyone who has a confirmed genetic diagnosis of PCD or PID
• Cystic Fibrosis
• Alpha-antitrypsin deficiency in adults (18 years and older)
• Congenital upper or lower airway anomalies
• Post-lung or heart transplant, or other conditions requiring immunosuppression therapy
• Other confounding features, such as lung disease due to prematurity (born < 28 weeks gestation) or HIV
• Neurological compromise and evidence of recurrent aspiration
• Conditions known to be commonly associated with bronchiectasis, such as prior mycobacterium tuberculosis
• Have not had standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease, particularly cystic fibrosis, aspiration or airway anatomic abnormalities.

Where it is running

• Stanford University — Palo Alto, California, United States
• Children's Hospital Colorado — Aurora, Colorado, United States
• National Heart, Lung and Blood Institute — Bethesda, Maryland, United States
• Washington University in St. Louis — St Louis, Missouri, United States
• University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States
• Seattle Children's Hospital — Seattle, Washington, United States
• The Hospital for Sick Children — Toronto, Ontario, Canada
• McGill University — Montreal, Quebec, Canada

Full record on ClinicalTrials.gov

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