Respiratory Tract (Lung and Bronchial) Diseases

Immune System Diseases

All Conditions

Symptoms and General Pathology

Digestive System Diseases

Diseases and Abnormalities at or Before Birth

Blood and Lymph Conditions

Neoplasms

Nervous System Diseases

Skin and Connective Tissue Diseases

Rare Diseases

Asthma

Sclerosis

Lung Diseases

Fibrosis

Pulmonary Fibrosis

Cystic Fibrosis

Sarcoidosis

Alpha 1-Antitrypsin Deficiency

Tuberous Sclerosis

Sarcoidosis, Pulmonary

Respiratory Tract Diseases

Hypersensitivity

Pancreatic Diseases

Gastrointestinal Diseases

Genetic Diseases, Inborn

Infant, Newborn, Diseases

Lung Diseases, Interstitial

Lymphoproliferative Disorders

Lymphatic Diseases

Hypersensitivity, Delayed

Hamartoma

Neoplasms, Multiple Primary

Syndrome

Neoplastic Syndromes, Hereditary

Congenital Abnormalities

Malformations of Cortical Development

Nervous System Malformations

Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Alpha-1 Antitrypsin Deficiency

Tuberous Sclerosis Complex

Vasodilator Agents

Respiratory System Agents

All Drugs and Chemicals

Nitric Oxide

Alpha 1-Antitrypsin

Protein C Inhibitor

Subjects with pulmonary disease or possible pulmonary disease and Relatives

Tatyana Worthy, R.N.

Joel Moss, M.D.

Tatyana Worthy, B.S.

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.

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.

Role of Genetic Factors in the Development of Lung Disease

Role of Genetic Factors in the Pathogenesis of Lung Disease

.This is a new requirement and the sharing of IPD is not discussed in the protocol.

distribution of genetic variants of nitric oxide synthases and other candidate genes involved in pulmonary function

The secondary scan can also be used to obtain a detailed assessment of AML-like tumors and lymphangioleiomyomas in the abdomen or pelvis region when they are detected in the standard chest-abdomen-pelvis CT scan. The enhanced resolution is expected to help classify the tumors without the need for invasive biopsy, for example, by detecting traces of fatty tissue in the tumor to confirm the identity of AML.

Suburban Hospital

National Heart, Lung, and Blood Institute (NHLBI)

Spots Global Cancer Trial Database for candidate genes