ClinicalTrials.gov record NCT00001532
Role of Genetic Factors in the Development of Lung Disease
Role of Genetic Factors in the Pathogenesis of Lung Disease
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a prospective observational study that looks for genetic differences and gene expression patterns in people with various lung diseases and in healthy controls. Participants provide medical information and biological samples for genetic study. An optional sub-study of up to 150 people compares standard chest CT scans with low-dose CT scans.
What it is studying. The study is testing how hereditary genetic variants and gene expression in lung cells are distributed among people with different lung diseases and healthy volunteers. It emphasizes variants in genes mentioned in the registry (for example, nitric oxide synthases, alpha 1-antitrypsin, and CFTR). Separately, a CT imaging sub-study compares standard CT scans to low-dose CT scans for detecting lung abnormalities.
What the researchers hope to learn. To define the distribution of genetic variants (including nitric oxide synthases, alpha 1-antitrypsin, and CFTR) in people with lung disease versus matched controls; to examine gene expression in lung cells; and to assess whether low-dose CT scans detect the same lung abnormalities as standard CT.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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....
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Inclusion criteria for patients with AAT deficiency include: (1) Diagnosis of AAT with a confirmed phenotype considered in the high risk category; (2) Clinical phenotype consistent with potential genetic diseases and other genetic causes of lung diseases (3) symptoms consistent with pulmonary disease; (4) chest x-ray consistent with pulmonary disease; (5) pulmonary function tests consistent with pulmonary disease; (6) smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have quit smoking three or more years ago;
- Inclusion criteria for individuals with chronic obstructive pulmonary diseases include:
- symptoms consistent with pulmonary disease
- chest x-ray consistent with pulmonary disease
- pulmonary function tests consistent with pulmonary disease;
- smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have not smoked for three or more years.
- Inclusion criteria for patients with cystic fibrosis include a defined genetic mutation (i.e., any of the known variants of the CFTR gene, such as delta F508 allele) or a cystic fibrosis phenotype and clinical features consistent with this disease. Children with cystic fibrosis over eight years of age may be included.
- Patients with established diagnoses of sarcoidosis; mycobacterial infections; TSC (definite or possible); cystic lung diseases including genetic diseases; lymphangioleiomyomatosis or diseases associated with lymphatic disorders; history of pneumothorax; pulmonary fibrosis; asthma; histiocytosis X and diabetes mellitus will be included in this protocol. Relatives of patients may also be seen under this protocol. Children with lymphangiomatosis who are two years of age or older may be included. Participants with asthma may be enrolled at Suburban Hospital.
- Research volunteers in the pulmonary control group are defined as individuals with no pulmonary disease (e.g. rheumatoid arthritis without evidence of pulmonary disease). Research volunteers in the diabetes control group are defined as individuals with no history of diabetes, coronary artery disease, or pulmonary disease.
- Pregnant and or nursing women can be included in accordance with Federal Regulations at Subpart B of 45 CFR 46. Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and/or nursing. Procedures that will not be completed while the subject is pregnant and/or nursing including: PFTs, Six Minute Walk Test, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI. Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy.
- Patients with abnormalities in ADP-ribosyltransferases, ADP-ribosyl-acceptor hydrolases, and their substrates. Children who are two years of age or older may be studied if they have a known defect in ADP-ribosylation, or if they have a family member with a defect in ADP-ribosylation and may be affected.
Exclusion criteria
- Exclusion criteria for all participants include:
- age less than 18 or greater than 90 except for NIH patients with diseases /disorders as described in this protocol (except cystic fibrosis, lymphangiomatosis or defects in ADP-ribosylation) who are 16 years of age or older, patients with cystic fibrosis who are over eight years of age, patients who are two years of age or older with lymphangiomatosis or a known defect in ADP-ribosylation, or who have a family member with a defect in ADP-ribosylation, or unless patient-specific IRB approval is obtained and;
- inability to obtain reliable pulmonary function testing. As clarification, healthy volunteers, relatives of patients (except as noted for an ADP-ribosylation defect), and asthmatic patients from Suburban Hospital will be excluded if less than 18 or greater than 90 years of age.
- Exclusion criteria for participating in the bronchoscopy portion of the study are:
- presence of any contraindication for fiberoptic bronchoscopy, with lavage and/or bronchial brushing;
- advanced stage of a pulmonary or a systemic illness such that the risk is judged to be significant even in the absence of a specific contraindication to the procedure
- allergy to topical anesthetic (e.g., lidocaine)
- current or recent respiratory infection (within the last 4 weeks)
- pregnancy or lactation
- age less than 18 or greater than 65.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
This study is designed to evaluate genetic mechanisms of lung disease by surveying polymorphic genes involved in respiratory function and examining gene expression in the lung cells of individuals with pulmonary disease (e.g., alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, history of infection, and genetic mutations consistent with lung pathology). Emphasis will be on defining the distribution of allelic variants of nitric oxide synthase, alpha 1-antitrypsin, and the cystic fibrosis transmembrane conductance regulator genes in patients and in age- and sex-matched healthy individuals in a control population.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants give samples for genetic testing and for studies of gene expression in lung cells; this can include lung-cell sampling (for example, bronchoscopy with lavage or brushing, an invasive procedure) and other specimen types. They may also have chest imaging (x‑ray, CT scans), pulmonary function tests, six‑minute walk tests, and in some cases thoracentesis. An optional CT sub‑study will compare standard CT to a low‑dose CT for up to 150 subjects (up to 100 adults with lung disease and up to 50 children age 9 and older with CF); children are only included in that sub‑study if a prior standard CT is available, and one additional low‑dose chest CT may be done at the next annual CT. Pregnancy will delay higher‑risk procedures and bronchoscopy has specific extra exclusion rules.
How the study is structured. A prospective, observational case-control study. Researchers compare people who have specified lung diseases with age- and sex-matched healthy volunteers. Participants do not receive experimental treatments; investigators collect health information, biological samples for genetic analysis, and, for some, imaging data (optional low-dose CT).
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on tuberous sclerosis complex
Important dates
- Study start
- Sep 13, 1996
- Target enrollment
- 3500 participants (estimated)
- Last updated on registry
- Oct 8, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- Collaborators
- Suburban Hospital
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Tatyana A Worthy, R.N. 📞 (301) 827-1376 ✉ worthyt@mail.nih.gov
- Joel Moss, M.D. 📞 (301) 496-1597 ✉ mossj@nhlbi.nih.gov
Participating sites (2)
- Suburban HospitalCompleted
Bethesda, Maryland, 20814 · United States
- National Institutes of Health Clinical CenterRecruiting
Bethesda, Maryland, 20892 · United States
- Tatyana Worthy, B.S. · 301-827-1376 · worthyt@mail.nih.gov
Terms used on this page · explanations by MedicalUpdates.ai
- CT
- An X-ray scan that builds detailed cross-section images of the body. 'High-resolution' CT (HRCT) is used to look closely at the lungs.
- Inclusion criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- control group
- The group the study treatment is compared with. It may receive a placebo, an existing treatment (active comparator), a sham procedure, or no intervention.
- MRI
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- Exclusion criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- contraindication
- A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
← Back to clinical trials