Analysis of Specimens From Individuals With Pulmonary Fibrosis

Status: Recruiting
Location: See location...
Study Type: Observational

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....

Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: Accepts Healthy Volunteers

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

• Idiopathic pulmonary fibrosis [defined 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 or by genetic testing),

• Pulmonary fibrosis associated with collagen vascular diseases or autoinflammatory disorders,

• Pulmonary fibrosis post-COVID-19 [i.e., pulmonary fibrosis in an individual recovering from SARS-CoV-2 infection], or

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

United States
National Institutes of Health Clinical Center
Contact Information
Wendy J Introne, M.D.
(301) 451-8879
Time Frame
Start Date: June 9, 2004
Target number of participants: 500
Family members of patients with pulmonary fibrosis
Healthy Volunteers
Healthy Volunteers
Pulmonary Fibrosis
Patients with pulmonary fibrosis
Bernadette R Gochuico, Wendy J Introne
Leads: National Human Genome Research Institute (NHGRI)

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