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ID

45552

Description

Principal Investigator: David Schwartz, MD, University of Colorado, Denver, USA MeSH: Pulmonary Disease, Chronic Obstructive,Lung Diseases, Interstitial,Pulmonary Emphysema https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000624 Chronic lung diseases represent a broad spectrum of chronic fibrosing/inflammatory lung conditions that are for the most part poorly responsive to treatment and often fatal. COPD/emphysema is the fourth leading cause of death in the United States and the incidence and rate of death from pulmonary fibrosis is increasing each year. Although progress has been made in interpretation of the clinical, radiological, and pathological features of chronic lung disorders, and progress in determining the pathobiology continues, the causes, biologic mechanisms, and therapeutic options remain obscure. Moreover, predicting individuals or populations at risk for developing any of these complex diseases, at present, is not possible. To address this challenge, we plan to create a genetic, molecular, and quantitative clinical phenotyping data warehouse with bioinformatic tools that will empower investigators to make fundamental discoveries in disease pathogenesis, refine diagnostic criteria, and lead to real gains in personalized medicine. The composite genetic, genomic, and epigenetic signature combined with quantitative clinical phenotypes has the potential to characterize the dynamic biological state of a complex disease and complement existing diagnostic approaches that are reliant on traditional clinical measures of disease. In the proposed project, we plan to extend the scope and impact of the NHLBI Lung Tissue Research Consortium (LTRC) biorepository by creating the Lung Genomics Research Consortium (LGRC), a comprehensive genetic, molecular, and quantitative clinical phenotyping warehouse. *Our overall hypothesis is that a genetic, molecular, and quantitative clinical phenotyping warehouse combined with a rich clinical database will enable the lung research community to make fundamental discoveries in disease pathogenesis, refine diagnostic criteria, and lead to real gains in personalized medicine.* We plan to pursue this hypothesis through the following aims. *Specific Aim 1: *Establish a genetic, genomic, and epigenetic molecular library to complement the existing clinical database in the LTRC. *Specific Aim 2: *Develop a quantitative clinical phenotyping platform using existing LTRC data, as well as an enhanced data set including novel quantitative CT and histology imaging analyses. *Specific Aim 3: *Establish a publicly-accessible database that would integrate the genetic, molecular, and quantitative phenotyping data with the existing clinical data in the LTRC and provide query and data exploration tools that are easily accessible to the lung research community. These discoveries will enable clinicians to- Identify individuals at risk of developing chronic lung diseases; - Diagnose these conditions earlier; - Identify novel mechanisms that cause these diseases; - Reclassify disease entities into categories more representative of molecular and cellular pathogenic mechanisms regardless of traditional disease categories; - develop personalized approaches to treatment.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000624

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Versions (1)
  1. 1/9/23 1/9/23 - Dr. med. Lucy Kessler
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David Schwartz, MD, University of Colorado, Denver, USA

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January 9, 2023

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Creative Commons BY 4.0
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    dbGaP phs000624 The Lung Genomics Research Consortium (LGRC)

    English

    Eligibility Criteria

    5 forms  
    Inclusion and exclusion criteria
    Description

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    The LTRC study population has already been established by the NHLBI (http://www.ltrcpublic.com) and we have received approval to access all biological specimens (see letter of support). The LTRC enrolls donor subjects who are anticipating lung surgery, collects blood and extensive phenotypic data from the prospective donors, and then processes their surgical waste tissues for research use. Most donor subjects have COPD/emphysema or pulmonary fibrosis. A standardized clinical data collection protocol to assure uniformity of the data and a standardized tissue collection and processing protocol is followed to assure high quality biospecimens, and to allow for pathological study, immunohistochemistry, gene expression analyses, biomarker measurements, genetic analyses, and electron microscopy. Phenotype data is discussed in Aim 2. We plan to conduct the proposed study in all LTRC subjects, including at least 1261 patients with chronic lung disease (fibrotic interstitial lung disease (N=393; 31%), COPD/emphysema (N=545; 43%), other chronic lung disease (N=323; 26%)) and 176 control lungs (obtained from individuals with lung cancer). Since the LTRC is continuing to enroll subjects at a rate of at least 250/year, we anticipate that we will be able to include at least 1500 LTRC study subjects. In addition, we have access to 100 flash frozen and formalin fixed samples from normal lung. These lungs were donor lungs for transplantation. Single whole-lung samples from 100 individuals were obtained from Tissue Transformation Technologies (Edison, NJ). All individuals had suffered brain death and were evaluated for organ transplantation before research consent. Informed consent was obtained at the time of transplant evaluation. All specimens failed regional lung selection criteria for transplantation. For inclusion in this proposal, subjects had to demonstrate no evidence of active infection or chest radiographic abnormalities, mechanical ventilation < 48 h, PaO2/FiO2 ratio > 200, and no past medical history of underlying lung disease or systemic disease that involves the lungs (e.g., rheumatoid arthritis). Lung samples were procured within 34 h after brain death (mean, 16.2 h; range, 4.5-33.25 h), and DNA/RNA has been extracted and quality checked.
    Description

    Elig.phs000624.v1.p1.1

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C3846158
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    Eligibility Criteria

    5 forms
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs000624.v1.p1.1
    Item
    The LTRC study population has already been established by the NHLBI (http://www.ltrcpublic.com) and we have received approval to access all biological specimens (see letter of support). The LTRC enrolls donor subjects who are anticipating lung surgery, collects blood and extensive phenotypic data from the prospective donors, and then processes their surgical waste tissues for research use. Most donor subjects have COPD/emphysema or pulmonary fibrosis. A standardized clinical data collection protocol to assure uniformity of the data and a standardized tissue collection and processing protocol is followed to assure high quality biospecimens, and to allow for pathological study, immunohistochemistry, gene expression analyses, biomarker measurements, genetic analyses, and electron microscopy. Phenotype data is discussed in Aim 2. We plan to conduct the proposed study in all LTRC subjects, including at least 1261 patients with chronic lung disease (fibrotic interstitial lung disease (N=393; 31%), COPD/emphysema (N=545; 43%), other chronic lung disease (N=323; 26%)) and 176 control lungs (obtained from individuals with lung cancer). Since the LTRC is continuing to enroll subjects at a rate of at least 250/year, we anticipate that we will be able to include at least 1500 LTRC study subjects. In addition, we have access to 100 flash frozen and formalin fixed samples from normal lung. These lungs were donor lungs for transplantation. Single whole-lung samples from 100 individuals were obtained from Tissue Transformation Technologies (Edison, NJ). All individuals had suffered brain death and were evaluated for organ transplantation before research consent. Informed consent was obtained at the time of transplant evaluation. All specimens failed regional lung selection criteria for transplantation. For inclusion in this proposal, subjects had to demonstrate no evidence of active infection or chest radiographic abnormalities, mechanical ventilation < 48 h, PaO2/FiO2 ratio > 200, and no past medical history of underlying lung disease or systemic disease that involves the lungs (e.g., rheumatoid arthritis). Lung samples were procured within 34 h after brain death (mean, 16.2 h; range, 4.5-33.25 h), and DNA/RNA has been extracted and quality checked.
    boolean
    C3846158 (UMLS CUI [1,1])
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