Status:
COMPLETED
Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
Lead Sponsor:
University of North Carolina, Chapel Hill
Collaborating Sponsors:
Washington University School of Medicine
National Heart, Lung, and Blood Institute (NHLBI)
Conditions:
Primary Ciliary Dyskinesia
Primary Immune Deficiency
Eligibility:
All Genders
5-45 years
Brief 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...
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 n...
Eligibility Criteria
Inclusion
- 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).
- 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
- 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.
Key Trial Info
Start Date :
December 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
August 6 2025
Estimated Enrollment :
436 Patients enrolled
Trial Details
Trial ID
NCT04702243
Start Date
December 1 2020
End Date
August 6 2025
Last Update
August 21 2025
Active Locations (8)
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1
Stanford University
Palo Alto, California, United States, 94304
2
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
3
National Heart, Lung and Blood Institute
Bethesda, Maryland, United States, 20814
4
Washington University in St. Louis
St Louis, Missouri, United States, 63130