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Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF) (GWAS)

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ClinicalTrials.gov Identifier: NCT01088217
Recruitment Status : Recruiting
First Posted : March 17, 2010
Last Update Posted : March 29, 2018
Sponsor:
Collaborators:
University of Colorado, Denver
Vanderbilt University
Landspitali University Hospital
Information provided by (Responsible Party):
National Jewish Health

Brief Summary:
The purpose of this study is to investigate inherited genetic factors that play a role in the development of familial pulmonary fibrosis and to identify a group of genes that predispose individuals to develop pulmonary fibrosis. Finding the genes that cause pulmonary fibrosis is the first step at developing better methods for early diagnosis and improved treatment for pulmonary fibrosis. The overall hypothesis is that inherited genetic factors predispose individuals to develop pulmonary fibrosis.

Condition or disease
Idiopathic Pulmonary Fibrosis Familial Pulmonary Fibrosis Idiopathic Interstitial Pneumonia Familial Interstitial Pneumonia

Detailed Description:
Familial Pulmonary Fibrosis (FPF) is a sub-category of the idiopathic interstitial pneumonias (IIPs). IIPs are progressive lung conditions, with limited treatment options and unknown etiology. Though the IIPs have been associated with both genetic risk factors and environmental exposures, the molecular mechanism underlying disease progression remain poorly understood. This investigation seeks to identify a group of genetic loci that play a role in the development of familial interstitial pneumonia (FIP) or FPF, where 2 or more cases of IIP are seen within a family.

Study Type : Observational
Estimated Enrollment : 8000 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF)
Study Start Date : July 2008
Estimated Primary Completion Date : June 2019
Estimated Study Completion Date : June 2019





Primary Outcome Measures :
  1. Identify a group of genetic loci that play a role in the development of familial interstitial pneumonia and idiopathic interstitial pneumonia. [ Time Frame: 10 years ]
    The purpose of this study is to investigate inherited genetic factors that play a role in the development of pulmonary fibrosis and to identify a group of genetic loci/genes that predispose individuals to develop IIP. We will achieve this goal by employing various methods of genetic technology for gene discovery.


Secondary Outcome Measures :
  1. Develop biomarkers using proteomic and genomic approaches that will facilitate establishing the diagnosis and prognosis of both familial and sporadic forms of idiopathic interstitial pneumonia (IIP). [ Time Frame: 10 years ]
    A peripheral blood biomarker or biological signature (gene or protein expression pattern) of idiopathic interstitial pneumonias (IIPs) will simplify and improve the accuracy of diagnosis of IIP and diagnose individuals at an earlier, more treatable, stage of their disease. A peripheral blood biomarker for the diagnosis of IIPs and other interstitial lung diseases (ILDs) will potentially decrease the need for invasive surgical lung biopsy, and thereby avoid the additional cost, morbidity, and mortality associated with surgical lung biopsy.


Biospecimen Retention:   Samples With DNA
whole blood, serum, plasma, lung tissue, DNA, RNA


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Families with two or more individuals diagnosed with Idiopathic Pulmonary Fibrosis (IPF) or Idiopathic Interstitial Pneumonia (IIP)
Criteria

Inclusion Criteria:

  • Two or more family members with a clinical diagnosis of Idiopathic Pulmonary Fibrosis (IPF) or Idiopathic Interstitial Pneumonia (IIP)
  • Additional family members may be eligible to participate if two family members are suspected of or diagnosed as having Idiopathic Pulmonary Fibrosis (IPF) or Idiopathic Interstitial Pneumonia (IIP)

Exclusion Criteria:

  • Individuals whose pulmonary fibrosis is due to a known cause rather than idiopathic
  • Individuals whose pulmonary fibrosis is due to a broader genetic syndrome

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01088217


Contacts
Contact: Julie Powers, MHS 303-724-6539 julia.powers@ucdenver.edu
Contact: Janet Talbert, MS, CGC 1-800-423-8891 ext 1022 talbertj@njhealth.org

Locations
United States, Colorado
University of Colorado Denver Recruiting
Aurora, Colorado, United States, 80045
Contact: Julie Powers, MHS    303-724-6539    julia.powers@ucdenver.edu   
Contact: Janet Talbert, MS, CGC    1-800-423-8891 ext 1022    talbertj@njhealth.org   
Principal Investigator: David A. Schwartz, MD         
Sub-Investigator: Marvin I Schwarz, MD         
Sub-Investigator: Ivana Yang, PhD         
Sub-Investigator: Tasha E Fingerlin, PhD         
Sub-Investigator: Rebecca Keith, MD         
Sub-Investigator: Carlyne Cool, MD         
Sub-Investigator: Anna Peljto, DrPh         
National Jewish Health and University of Colorado Denver Recruiting
Denver, Colorado, United States, 80206
Contact: Janet Talbert, MS, CGC    800-423-8891 ext 1022    talbertj@njhealth.org   
Contact: Julie Powers, MHS    303-724-6539    julia.powers@ucdenver.edu   
Principal Investigator: David A. Schwartz, MD         
Sub-Investigator: Kevin K. Brown, MD         
Sub-Investigator: Gregory P. Cosgrove, MD         
Sub-Investigator: Marvin I. Schwarz, MD         
Sub-Investigator: Tasha Fingerlin, PhD         
Sub-Investigator: Steve Groshong, MD, PhD         
Sub-Investigator: David Lynch, MD         
Sub-Investigator: James Crapo, MD         
United States, Tennessee
Vanderbilt University Recruiting
Nashville, Tennessee, United States, 37232
Contact: Cheryl Markin, MT    888-898-1550    cheryl.markin@vanderbilt.edu   
Principal Investigator: James E. Loyd, MD         
Iceland
Landspitali University Hospital Recruiting
Reykjavik, Iceland
Principal Investigator: Gunnar Gudmundsson, MD         
Sponsors and Collaborators
National Jewish Health
University of Colorado, Denver
Vanderbilt University
Landspitali University Hospital
Investigators
Principal Investigator: David A. Schwartz, MD University of Colorado Denver; National Jewish Health

Responsible Party: National Jewish Health
ClinicalTrials.gov Identifier: NCT01088217     History of Changes
Other Study ID Numbers: 2R01HL097163 ( U.S. NIH Grant/Contract )
First Posted: March 17, 2010    Key Record Dates
Last Update Posted: March 29, 2018
Last Verified: March 2018

Keywords provided by National Jewish Health:
Idiopathic Pulmonary Fibrosis
Familial Pulmonary Fibrosis
Idiopathic Interstitial Pneumonia
Familial Interstitial Pneumonia
Pulmonary Fibrosis

Additional relevant MeSH terms:
Fibrosis
Pneumonia
Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
Idiopathic Interstitial Pneumonias
Lung Diseases, Interstitial
Pathologic Processes
Lung Diseases
Respiratory Tract Diseases
Respiratory Tract Infections