Analysis of Specimens From Individuals With Pulmonary Fibrosis

NCT00084305 | Active Not Recruiting

• 2 other identifiers: 04021104-HG-0211
• Study Type: observational
• Target: 315
• Locations: 1 country
• Sites: 1

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.

Conditions

Hermansky-Pudlak Syndrome (HPS); Pulmonary Fibrosis; Healthy Volunteers

Keywords

Bronchoscopy; Pulmonary Fibrosis; Lung Biopsy (Clinically-Indicated); Natural History

Outcome Measures

Primary Outcomes (1)

• Procure and analyze

  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.

  Ongoing

Study Arms (3)

Family

Family members of patients with pulmonary fibrosis

Healthy Volunteers

Healthy Volunteers

Pulmonary Fibrosis

Patients with pulmonary fibrosis

Eligibility Criteria

• Age: 18 Years - 115 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with pulmonary fibrosis@@@@@@

You may qualify if:

• 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).

You may not qualify if:

• 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).

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4.

  PMID: 30369044 DERIVED

• El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR. The Immunome in Two Inherited Forms of Pulmonary Fibrosis. Front Immunol. 2018 Jan 31;9:76. doi: 10.3389/fimmu.2018.00076. eCollection 2018.

  PMID: 29445374 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Pulmonary Fibrosis; Hermanski-Pudlak Syndrome

Condition Hierarchy (Ancestors)

Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases; Fibrosis; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Albinism, Oculocutaneous; Albinism; Eye Diseases, Hereditary; Eye Diseases; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Platelet Storage Pool Deficiency; Blood Platelet Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Skin Diseases, Genetic; Hypopigmentation; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Wendy J Introne, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 9, 2004
• First Posted: June 10, 2004
• Study Start: June 9, 2004
• Last Updated: May 1, 2026

Record last verified: 2025-11-06

Locations

US (1)