Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis

The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens
procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated
extra-pulmonary biopsies, or post-mortem examination from individuals with this disorder may
contribute to our understanding of the pathogenic mechanisms of pulmonary fibrosis. The
purpose of this protocol is to procure and analyze blood, genomic DNA, and specimens by
bronchoscopy, lung biopsy, lung transplantation, extra-pulmonary biopsies, or post-mortem
examination from subjects with pulmonary fibrosis. In addition, blood, genomic DNA,
clinically-indicated extra-pulmonary biopsies, as well as bronchoscopy and post-mortem
examination specimens may be procured and analyzed from relatives of subjects with hereditary
forms of pulmonary fibrosis; blood, genomic DNA, and bronchoscopy specimens may be procured
from healthy research volunteers.

- INCLUSION CRITERIA:

Individuals who are 18 years of age or older with any of the following:

Idiopathic pulmonary fibrosis (defined by either an open lung biopsy demonstrating
pulmonary fibrosis and/or HRCT scan findings consistent with idiopathic pulmonary fibrosis
as outlined by the American Thoracic Society/European Respiratory Society guidelines),

Familial pulmonary fibrosis (defined as idiopathic pulmonary fibrosis in two or more
first-degree relatives)

Relatives of patients with hereditary pulmonary fibrosis,

Hermansky-Pudlak syndrome (diagnosed by paucity or deficiency of platelet dense bodies on
whole mount electron microscopy),

Pulmonary fibrosis associated with rheumatoid arthritis [defined by 1987 American College
of Rheumatology Revised Criteria for the Classification of RA], or

Healthy research volunteers by history and indicated tests (individuals without history of
chronic pulmonary disorder, collagen vascular disease, or bleeding disorder).

EXCLUSION CRITERIA:

Individuals with any of the following:

Significant Inhalational exposure to fibrogenic fibers or dusts (i.e., asbestos, silica,
coal, beryllium) or exposure to drugs associated with pulmonary fibrosis,

Uncontrolled ischemic heart disease,

Other collagen vascular disorders (i.e. systemic lupus erythematosus, scleroderma,
polymyositis, mixed connective tissue disease),

Uncorrectable bleeding diathesis,

Pregnancy or lactation, or

Inability to give informed consent.