Role of Genetic Factors in the Development of Lung Disease

  • End date
    Sep 30, 2030
  • participants needed
  • sponsor
    National Heart, Lung, and Blood Institute (NHLBI)
Updated on 21 July 2021
ct scan
chest x-ray
pulmonary function test
chest ct
pulmonary disease
MRI Scan
pulmonary fibrosis
genetic disorder
obstructive lung disease
cftr gene
lung ct
lymphatic disorders
histiocytosis x


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


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....


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.

Condition Pulmonary Disease, Tuberous Sclerosis, Cystic Fibrosis, Pancreatic disorder, Pulmonary Fibrosis, Hereditary Neoplastic Syndrome, Sarcoidosis, Asthma, Pulmonary sarcoidosis, Allergies & Asthma, Pancreatic Disorders, Asthma (Pediatric), Lung Disease, Hereditary Cancer Syndromes, sarcoidosis, pulmonary, asthmatic, bronchial asthma, lung fibrosis, pringle, sclerosis, cerebral, bourneville's disease
Treatment Toshibia Aquilion One CT
Clinical Study IdentifierNCT00001532
SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Last Modified on21 July 2021


Yes No Not Sure

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
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
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
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
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