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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

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: 45 Years

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Chronic/recurring infections;
Mucociliary Clearance;
structural lung disease;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Bronchiectasis;
Primary ciliary dyskinesia PCD;
Primary immunodeficiency disorders PID

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Heart, Lung, and Blood Institute

Background:

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 5-45 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.

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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Eligibility

INCLUSION CRITERIA:

General Criteria

1. Age 5-45 years

2. Male and Female Subjects

3. All races and ethnicities

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


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Andrew J. Lipton, M.D.
National Heart, Lung and Blood Institute (NHLBI)
NIHBC 10 - CRC BG RM 5-1409
10 CENTER DR
BETHESDA MD 20892
(301) 451-4950
andrew.lipton@nih.gov

Kelly C. Kumar, C.R.N.P.
National Heart, Lung and Blood Institute (NHLBI)
NIHBC 10 - CRC BG RM 5-1408
10 CENTER DR
BETHESDA MD 20892
(301) 646-6826
kumarkc@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT04702243

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