Protocol Details

Analysis of Specimens from Individuals with Pulmonary Fibrosis

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	04-HG-0211
Sponsoring Institute	National Human Genome Research Institute (NHGRI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 18 Years Max Age: 115 Years
Referral Letter Required	No
Population Exclusion(s)	Children; Fetuses; Adults who are or may become unable to consent; Pregnant Women
Keywords	Bronchoscopy; Pulmonary Fibrosis; Lung Biopsy (Clinically-Indicated); Natural History
Recruitment Keyword(s)	None
Condition(s)	Pulmonary Fibrosis; Healthy Volunteers; Hermansky-Pudlak Syndrome (HPS)
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Human Genome Research Institute

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.

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Eligibility

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 (excluded due to exposure of unnecessary risks), or

-Inability to give informed consent (excluded due to exposure of unnecessary risks).

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Citations:

Not Provided

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Contacts:

Principal Investigator	Referral Contact	For more information:
Wendy J. Introne, M.D. National Human Genome Research Institute (NHGRI) NIHBC 10 - CRC BG RM 3-5545 10 CENTER DR BETHESDA MD 20892 (301) 451-8879 wi2p@nih.gov	Wendy J. Introne, M.D. National Human Genome Research Institute (NHGRI) NIHBC 10 - CRC BG RM 3-5545 10 CENTER DR BETHESDA MD 20892 (301) 451-8879 wi2p@nih.gov	Office of Patient Recruitment National Institutes of Health Clinical Center (CC) Building 61, 10 Cloister Court Bethesda, Maryland 20892 Toll Free: 1-800-411-1222 Local Phone: 301-451-4383 TTY: TTY Users Dial 7-1-1 ccopr@nih.gov

Clinical Trials Number:

NCT00084305

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