Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis
Conditions
Keywords
Bronchoscopy, Pulmonary Fibrosis, Lung Biopsy (Clinically-Indicated), Natural History
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.
Interventions
None listed
Sponsors
National Human Genome Research Institute (NHGRI)
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 115 Years
Healthy volunteers
No
Inclusion 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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORWendy J Introne, M.D.
National Human Genome Research Institute (NHGRI)
Outcome results
None listed