CompletedNot Applicable

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

United States, Canada436 participantsStarted 2020-12-01

Plain-language 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).

Who can participate

Age range

5 Years – 45 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Number of Participants with a Confirmed Diagnosis of PCD or PID

Timeframe: Up to approximately 4 years

Prevalence of Neonatal Respiratory Distress Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of the Onset of Chronic Nasal Congestion Before Six Months of Age Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of the Onset of Daily Wet Cough Before Six Months of Age Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of Laterality Defects Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of Chronic/Recurrent Sinus Disease Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of Chronic/Recurrent Middle Ear Disease Seen in PCD and PID

Timeframe: During a single 6-hour visit

Trial details

NCT IDNCT04702243

SponsorUniversity of North Carolina, Chapel Hill

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-08-06

View on ClinicalTrials.gov More Primary Ciliary Dyskinesia trials

Who can participate

Age range

5 Years – 45 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Number of Participants with a Confirmed Diagnosis of PCD or PID

Timeframe: Up to approximately 4 years

Prevalence of Neonatal Respiratory Distress Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of the Onset of Chronic Nasal Congestion Before Six Months of Age Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of the Onset of Daily Wet Cough Before Six Months of Age Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of Laterality Defects Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of Chronic/Recurrent Sinus Disease Seen in PCD and PID

Timeframe: During a single 6-hour visit

Prevalence of Chronic/Recurrent Middle Ear Disease Seen in PCD and PID

Timeframe: During a single 6-hour visit