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Analysis of Specimens From Individuals With Pulmonary Fibrosis

NCT ID: NCT00084305

Last Updated: 2025-11-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

315 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-06-09

Brief Summary

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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....

Detailed Description

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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

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Pulmonary Fibrosis Healthy Volunteers Hermansky-Pudlak Syndrome (HPS)

Keywords

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Family

Family members of patients with pulmonary fibrosis

No interventions assigned to this group

Healthy Volunteers

Healthy Volunteers

No interventions assigned to this group

Pulmonary Fibrosis

Patients with pulmonary fibrosis

No interventions assigned to this group

Eligibility Criteria

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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).
Minimum Eligible Age

18 Years

Maximum Eligible Age

115 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Wendy J Introne, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Human Genome Research Institute (NHGRI)

Locations

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National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status

Countries

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United States

References

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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.

Reference Type DERIVED
PMID: 30369044 (View on PubMed)

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.

Reference Type DERIVED
PMID: 29445374 (View on PubMed)

Related Links

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https://clinicalstudies.info.nih.gov/cgi/detail.cgi?B_2004-HG-0211.html

NIH Clinical Center Detailed Web Page

Other Identifiers

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04-HG-0211

Identifier Type: -

Identifier Source: secondary_id

040211

Identifier Type: -

Identifier Source: org_study_id