Analysis of Specimens From Individuals With Pulmonary Fibrosis

Sponsor

National Human Genome Research Institute (NHGRI) (NIH)

Overall Status

Recruiting

CT.gov ID

NCT00084305

Collaborator

(none)

500

Enrollment

Location

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Pulmonary Fibrosis Healthy Volunteers Hermansky-Pudlak Syndrome (HPS)

Detailed Description

Study Design

Study Type:

Observational

Anticipated Enrollment :

500 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

Analysis of Specimens From Individuals With Pulmonary Fibrosis

Actual Study Start Date :

Jun 9, 2004

Arms and Interventions

Arm	Intervention/Treatment
Family Family members of patients with pulmonary fibrosis
Healthy Volunteers Healthy Volunteers
Pulmonary Fibrosis Patients with pulmonary fibrosis

Outcome Measures

Primary Outcome Measures

Procure and analyze [Ongoing]
The objectives and specific aims of this protocol are to procure and analyze blood and cell/tissue specimens from individuals with pulmonary fibrosis, relatives of subjects with familial pulmonary fibrosis, and healthy research volunteers.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

INCLUSION CRITERIA:

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).

EXCLUSION CRITERIA:

Individuals with any of the following:

Significant inhalational exposure to fibrogenic fibers or dusts or exposure to drugs associated with pulmonary fibrosis,
Uncontrolled ischemic heart disease,
Uncorrectable bleeding diathesis,
Pregnancy or lactation, or
Inability to give informed consent.