This study is currently recruiting participants.
Number
000272-H
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 5 Years Max Age: 100 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Chronic/recurring infections; Mucociliary Clearance; structural lung disease; Natural History
Recruitment Keyword(s)
Condition(s)
Bronchiectasis; Primary ciliary dyskinesia PCD; Primary immunodeficiency disorders PID
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung, and Blood Institute
Many people who have Primary Immune Deficiency (PID) or Primary Ciliary Dyskinesia (PCD) develop chronic airways disease. They are also at risk for other health problems. Researchers want to learn more about these diseases.
Objective:
To evaluate people to try to better diagnose PID or PCD using clinical exams and genetic testing.
Eligibility:
People aged 5 and older who have a tentative diagnosis of PID or PCD or have suppurative lung disease compatible with one of these disorders. Family members (any age) are also needed. For subjects over age 45 at the time of enrollment, adult symptom criteria must have been met prior to age 45 years.
Design:
Participants will have one study visit that will last for 6 hours. They may be invited back for a second visit that will last for 5 hours.
Participants will review their medical and family history. They will have a physical exam. Their temperature, blood pressure, heart rate, and respiration rate will be taken. Their oxygen saturation level will be measured. They will take a breathing test to measure lung function.
A nasal nitric oxide measurement will be collected. For this, a small tube will be placed in one nostril. Participants will breathe out into a cardboard resistor tube through their mouth for several seconds during air collection from the nose.
Participants will give blood and sputum samples. They may twirl a small brush in their mouth along the inside of their cheek to collect DNA. The inside of their nose may be scraped to collect cells.
Participants may have a chest computed tomography scan.
Family members will have one 15-minute visit to collect a blood sample or cheek swab sample for DNA testing. They can mail their sample to NIH if needed
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INCLUSION CRITERIA: General Criteria 1. Age 5 years or greater 2. Male and Female Subjects 3. All races and ethnicities 4. For subjects over age 45 at the time of enrollment, adult symptom criteria must have been met prior to age 45 years Major Clinical Criteria 1. Bronchiectasis in > 1 lobe Minor Clinical Criteria, Lung 1. Neonatal respiratory distress (in term neonates with O2 requirement) 2. Chronic wet cough (year-round for at least 12 months) 3. Recurrent episodes of bacterial bronchitis 4. Recurrent pneumonia (confirmed on chest x-ray) 5. Respiratory non-tuberculous mycobacteria (documented respiratory NTM culture) Minor Clinical Criteria, Other 1. Chronic nasal congestion 2. Recurrent/chronic paranasal sinusitis 3. Ongoing middle-ear disease and/or tympanostomy tube placement at age >= 4 years 4. Organ laterality defect 5. Low nasal nitric oxide (< 77 nl/min) (by plateau measurement) 6. Confirmed family history of PID or PCD EXCLUSION CRITERIA: 1. Anyone who has a confirmed genetic diagnosis of PCD or PID 2. Cystic Fibrosis 3. Alpha-antitrypsin deficiency in adults (18 years and older) 4. Congenital upper or lower airway anomalies 5. Post-lung or heart transplant, or other conditions requiring immunosuppression therapy 6. Other confounding features, such as lung disease due to prematurity (born < 28 weeks gestation) or HIV 7. Neurological compromise and evidence of recurrent aspiration 8. Conditions known to be commonly associated with bronchiectasis, such as prior mycobacterium tuberculosis 9. Have not had standard clinical evaluation to address other potential causes of chronic
General Criteria
1. Age 5 years or greater
2. Male and Female Subjects
3. All races and ethnicities
4. For subjects over age 45 at the time of enrollment, adult symptom criteria must have been met prior to age 45 years
Major Clinical Criteria
1. Bronchiectasis in > 1 lobe
Minor Clinical Criteria, Lung
1. Neonatal respiratory distress (in term neonates with O2 requirement)
2. Chronic wet cough (year-round for at least 12 months)
3. Recurrent episodes of bacterial bronchitis
4. Recurrent pneumonia (confirmed on chest x-ray)
5. Respiratory non-tuberculous mycobacteria (documented respiratory NTM culture)
Minor Clinical Criteria, Other
1. Chronic nasal congestion
2. Recurrent/chronic paranasal sinusitis
3. Ongoing middle-ear disease and/or tympanostomy tube placement at age >= 4 years
4. Organ laterality defect
5. Low nasal nitric oxide (< 77 nl/min) (by plateau measurement)
6. Confirmed family history of PID or PCD
EXCLUSION CRITERIA:
1. Anyone who has a confirmed genetic diagnosis of PCD or PID
2. Cystic Fibrosis
3. Alpha-antitrypsin deficiency in adults (18 years and older)
4. Congenital upper or lower airway anomalies
5. Post-lung or heart transplant, or other conditions requiring immunosuppression therapy
6. Other confounding features, such as lung disease due to prematurity (born < 28 weeks gestation) or HIV
7. Neurological compromise and evidence of recurrent aspiration
8. Conditions known to be commonly associated with bronchiectasis, such as prior mycobacterium tuberculosis
9. Have not had standard clinical evaluation to address other potential causes of chronic
Principal Investigator
Referral Contact
For more information: