Major genetic mechanisms in pulmonary function.
B A Rybicki, T H Beaty, B H Cohen
https://pubmed.ncbi.nlm.nih.gov/2370574Actively Recruiting
Age: 2Years - 90Years
All Genders
Healthy Volunteers
ID00001532
Role of Genetic Factors in Lung Disease Development and Pathogenesis Observational Study Evaluating Genetic Contributions to Lung Conditions
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
Researchers are evaluating the genetic factors involved in the development of lung diseases by studying genes related to breathing and examining gene expression in lung cells of patients with various pulmonary conditions. The focus includes diseases like alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, and other genetic mutations linked to lung pathology. The study aims to define the distribution of abnormal genes, such as nitric oxide synthase, alpha 1-antitrypsin, and cystic fibrosis transmembrane conductance regulator, in patients and healthy individuals matched by age and sex. Participants include patients with confirmed genetic or clinical diagnoses of lung diseases and healthy volunteers. The study also offers an optional CT sub-study comparing standard CT scans with low radiation dose CT scans in up to 150 subjects, including adults with lung disease and children aged 9 and older with cystic fibrosis, to assess if low-dose scans can monitor lung disease effectively. Children in the CT sub-study must have had a standard CT scan for medical reasons, and may receive an additional low-dose CT scan during their next annual scan. Participants undergo assessments including pulmonary function tests, chest x-rays, and genetic testing. The study collects data on gene variants and tracks hereditary factors over a one-year period. Safety considerations include excluding pregnant or nursing women from procedures involving radiation or invasive testing during pregnancy. The total participant age range spans from 2 to 90 years, with specific criteria for different lung diseases and control groups.
CONDITIONS
Official Title
Role of Genetic Factors in the Development of Lung Disease
Who Can Participate
Age: 2Years - 90Years
All Genders
Healthy Volunteers
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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1
2
3
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
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Research Team
T
Tatyana A Worthy, R.N.
J
Joel Moss, M.D.
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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Published Research Related To This Trial
Cystic fibrosis.
M J Welsh, R B Fick
https://pubmed.ncbi.nlm.nih.gov/3316277Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms.
M L Brantly, L D Paul, B H Miller...
https://pubmed.ncbi.nlm.nih.gov/3264124Chest CT Scan at Radiation Dose of a Posteroanterior and Lateral Chest Radiograph Series: A Proof of Principle in Lymphangioleiomyomatosis.
Eileen Hu-Wang, John L Schuzer, Shirley Rollison...
https://pubmed.ncbi.nlm.nih.gov/30291925