Role of Genetic Factors in the Pathogenesis of Lung Disease

  • STATUS
    Recruiting
Updated on 23 November 2020
diabetes
pulmonary disease
pulmonary fibrosis
bronchoscopy

Summary

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.

 

Please visit our Patient Recruitment Pages for more information:

 

Description

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.

 

Please visit our Patient Recruitment Pages for more information:

Details
Condition Sarcoidosis, Asthma, COPD (Chronic Obstructive Pulmonary Disease)
Clinical Study IdentifierTX218186
Last Modified on23 November 2020

Eligibility

Yes No Not Sure

Inclusion Criteria

Inclusion criteria for patients with AAT deficiency include
Diagnosis of AAT with a confirmed phenotype considered in the high risk category
Clinical phenotype consistent with potential genetic diseases and other genetic causes of lung 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 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)
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
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