Identifying genetic causes of lung disease in children and adults
Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
This study is trying to find out the genetic causes of lung diseases in children and adults who may have certain immune or ciliary disorders that haven't been diagnosed yet.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1500 (estimated) |
| Ages | 5 Years to 45 Years |
| Sex | All |
| Sponsor | University of North Carolina, Chapel Hill Academic / other |
| Locations | 8 sites (Palo Alto, California and 7 other locations) |
| Trial ID | NCT04702243 on ClinicalTrials.gov |
What this trial studies
This observational study aims to systematically evaluate patients with suspected Primary Immunodeficiency (PID) disorders or Primary Ciliary Dyskinesia (PCD) who lack a confirmed genetic diagnosis. Over five years, participants will undergo a series of diagnostic tests, including nasal nitric oxide measurements and genetic testing using commercial panels and whole exome sequencing. The goal is to distinguish between PID and PCD by identifying unique genetic characteristics and improving diagnostic accuracy.
Who should consider this trial
Good fit: Ideal candidates include children and adults aged 5-45 years with bronchiectasis and other related clinical features indicative of PID or PCD.
Not a fit: Patients who do not exhibit bronchiectasis or the specified clinical criteria for PID or PCD may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and targeted treatments for patients with lung diseases linked to genetic factors.
How similar studies have performed: Other studies have shown promise in using genetic testing to identify underlying causes of similar respiratory conditions, suggesting a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Palo Alto, California and 7 other locations
- Stanford University — Palo Alto, California, United States (Recruiting)
- Children's Hospital Colorado — Aurora, Colorado, United States (Recruiting)
- National Heart, Lung and Blood Institute — Bethesda, Maryland, United States (Recruiting)
- Washington University in St. Louis — Saint Louis, Missouri, United States (Recruiting)
- University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States (Recruiting)
- Seattle Children's Hospital — Seattle, Washington, United States (Recruiting)
- The Hospital for Sick Children — Toronto, Ontario, Canada (Recruiting)
- McGill University — Montréal, Quebec, Canada (Recruiting)
Study contacts
- Principal investigator: Kenneth Olivier, MD, MPH — University of North Carolina, Chapel Hill
- Study coordinator: Kelli Sullivan, MPH
- Email: kelli_sullivan@med.unc.edu
- Phone: 919-962-9786
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.