Actively Recruiting
Role of Genetic Factors in the Development of Lung Disease
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-04-24
3500
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
Sponsors
N
National Heart, Lung, and Blood Institute (NHLBI)
Lead Sponsor
S
Suburban Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease. The study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volunteers. Optional CT Sub-study The standard CT scan will be compared to the low dose radiation CT scan for the 150 subjects enrolled in the sub-study to assess the variation between the two techniques. Specifically, the quantitative computer aided detection of lung CT abnormalities from LAM can be compared to assess whether low radiation dose CT exams is an alternative to conventional CT to monitor disease status. This optional sub-study will be offered to up to 100 adult subjects with lung disease and up to 50 children age 9 and older with CF. Children will not be enrolled in the optional CT sub-study unless they have had a standard CT scan for medical purposes to use in comparison. One additional low dose radiation CT scan of the chest may be done as part of this sub-study when these subjects have their next annual CT scan.
CONDITIONS
Official Title
Role of Genetic Factors in the Development of Lung Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of alpha 1-antitrypsin deficiency with a high-risk phenotype
- Clinical symptoms, chest x-ray, and pulmonary function tests consistent with pulmonary disease
- Current smokers (1 pack/day for at least 2 years) and nonsmokers or ex-smokers who quit smoking 3 or more years ago
- Diagnosis of chronic obstructive pulmonary disease with symptoms, chest x-ray, and pulmonary function tests consistent with disease
- Diagnosis of cystic fibrosis with a defined genetic mutation or phenotype; children over 8 years old may be included
- Established diagnoses of sarcoidosis, mycobacterial infections, tuberous sclerosis complex, cystic lung diseases including genetic diseases, lymphangioleiomyomatosis, history of pneumothorax, pulmonary fibrosis, asthma, histiocytosis X, and diabetes mellitus
- Relatives of patients may be included
- Children with lymphangiomatosis aged 2 years or older may be included
- Research volunteers without pulmonary disease for control groups
- Pregnant or nursing women can be included but excluded from procedures with greater than minimal risk during pregnancy
- Patients with abnormalities in ADP-ribosylation or family members with such defects, children 2 years or older may be studied
You will not qualify if you...
- Age under 18 or over 90 years, except specific groups: NIH patients with described diseases aged 16 or older, cystic fibrosis patients over 8 years, children with lymphangiomatosis or ADP-ribosylation defects aged 2 or older, or with specific IRB approval
- Inability to obtain reliable pulmonary function testing
- Healthy volunteers and asthmatic patients excluded if under 18 or over 90
- Contraindications for bronchoscopy, including allergies to topical anesthetics, recent respiratory infection within 4 weeks, pregnancy or lactation, advanced illness increasing risk
- Age under 18 or over 65 for bronchoscopy participation
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 2 locations
1
Suburban Hospital
Bethesda, Maryland, United States, 20814
Completed
2
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
T
Tatyana A Worthy, R.N.
CONTACT
J
Joel Moss, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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