Recruiting
Genetic Factors in Lung Disease Pathogenesis: Evaluation of Respiratory Function Genes and Lung Cell Gene Expression
Study Aim
This study aims to observe how specific genetic variants, particularly those related to nitric oxide synthases and other candidate genes, influence lung function and contribute to the development of lung diseases.
What is being collected
Data Collection
Collected from today forward - ProspectiveWho is being recruted
Congenital Abnormalities+40
+ Bronchial Diseases
+ Digestive System Diseases
From 2 to 90 Years
+20 Eligibility Criteria
How is the trial designed
Case-Control
Comparing exposures between individuals with and without disease in order to identify potential risk factors.Observational
Study Start: September 1996
Summary
Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Study ContactTatyana A Worthy, R.N.More contacts
Last updated: July 17, 2026Sourced from a government-validated database.Claim as a partner
Study start date: September 13, 1996
Actual date on which the first participant was enrolled.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.
Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Study ContactTatyana A Worthy, R.N.More contacts
Last updated: July 17, 2026Sourced from a government-validated database.Claim as a partner
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.Design Details
3500 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Case-Control
These studies compare people who have a disease (cases) with those who don't (controls). The goal is to look back at previous exposures or risk factors to identify what might have contributed to the disease.
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Conditions
Criteria
Any sex
Biological sex of participants that are eligible to enroll.From 2 to 90 Years
Range of ages for which participants are eligible to join.Healthy volunteers allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Congenital AbnormalitiesBronchial DiseasesDigestive System DiseasesEmphysemaFibrosisHamartomaHemic and Lymphatic DiseasesHypersensitivityHypersensitivity, DelayedHypersensitivity, ImmediateImmune System DiseasesInfant, Newborn, DiseasesLiver DiseasesLung Diseases, ObstructiveLymphatic DiseasesLymphoproliferative DisordersCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNeoplasmsNeoplasms, Multiple PrimaryNeoplastic Syndromes, HereditaryNervous System MalformationsNervous System DiseasesPancreatic DiseasesPathologic ProcessesRespiratory HypersensitivityRespiratory Tract DiseasesSarcoidosisSubcutaneous EmphysemaPathological Conditions, Signs and SymptomsLung Diseases, InterstitialNeurodegenerative DiseasesHeredodegenerative Disorders, Nervous SystemNeurocutaneous SyndromesGenetic Diseases, InbornMalformations of Cortical DevelopmentMalformations of Cortical Development, Group IAsthmaCystic FibrosisLung DiseasesPulmonary FibrosisTuberous SclerosisSarcoidosis, Pulmonaryalpha 1-Antitrypsin Deficiency
Criteria
12 inclusion criteria required to participate
(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
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
chest x-ray consistent with pulmonary disease
pulmonary function tests consistent with pulmonary disease
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8 exclusion criteria prevent from participating
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
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
age less than 18 or greater than 65
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Study Plan
Find out more about all the medication administered in this study, their detailed description and what they involve.Treatment Groups
Study Objectives
2 intervention groups are designated in this study
This study does not include a placebo group
Treatment Groups
Study Objectives
Primary Objectives
Secondary Objectives
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 2 locations
Recruiting
National Institutes of Health Clinical Center
Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google MapsCompleted
Suburban Hospital
Bethesda, United StatesRecruiting
2 Study Centers