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

Launched by UNIVERSITY OF NORTH CAROLINA, CHAPEL HILL · Jan 6, 2021

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the causes of certain lung diseases in both children and adults, specifically looking at conditions like Primary Ciliary Dyskinesia (PCD) and Primary Immune Deficiency (PID). Researchers want to find out how to better identify these conditions by examining specific characteristics in patients. This study is currently recruiting participants aged 5 to 45 years who have certain lung-related issues, particularly bronchiectasis, a condition where the airways become enlarged and damaged.

To be eligible for the trial, children must have bronchiectasis or other lung symptoms, while adults need to meet similar criteria. Participants will undergo detailed evaluations to help researchers learn more about their conditions. It's important to note that those with a confirmed genetic diagnosis of PCD or PID, as well as other specific health issues, are not eligible to participate. This study aims to improve diagnosis and treatment options for people with these complex lung diseases.

Gender

ALL

Eligibility criteria

• • Pediatric subjects (aged 5-17 years): Inclusion criteria include the major criterion (bronchiectasis in \> 1 lobe on current or chest CT in previous 24 months, if available for review), plus one minor criterion, or two minor criteria, if bronchiectasis is not present, (including at least 1 "lung" minor criteria).
• • Adult subjects (aged 18-45 years): Inclusion criteria include the major criteria (bronchiectasis in \> 1 lobe on current or chest CT in previous 36 months, if available for review), plus one minor criterion, or three minor criteria, if bronchiectasis is not present, (including at least 1 "lung" minor criteria).
• Inclusion Criteria:
• • 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
• Exclusion Criteria:
• • 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.