Clinical trial NCT00084305: Analysis of Specimens From Individuals With Pulmonary Fibrosis
Official title: Analysis of Specimens From Individuals With Pulmonary Fibrosis
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Pulmonary Fibrosis
Healthy Volunteers
Hermansky-Pudlak Syndrome (HPS)
Keywords: Bronchoscopy
Pulmonary Fibrosis
Lung Biopsy (Clinically-Indicated)
Natural History
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2004-06-10
Enrollment: 315
Sex: ALL
Minimum age (years): 18
Maximum age (years): 115
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with pulmonary fibrosis@@@@@@

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.

Detailed description: 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.

Eligibility criteria: * 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).

Primary outcomes:
measure: Procure and analyze
timeFrame: Ongoing
Secondary outcomes:
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Institutes of Health Clinical Center
state: Maryland
Study officials:
affiliation: National Human Genome Research Institute (NHGRI)
name: Wendy J Introne, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.