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

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.

Study Overview

• Status: Recruiting
• Conditions: Idiopathic Pulmonary Fibrosis; Idiopathic Interstitial Pneumonia; Familial Pulmonary Fibrosis; 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
• Enrollment (Anticipated): 8000

Contacts and Locations

• Study Contact: Name: Julie Powers, MHS; Phone Number: 303-724-6539; Email: julia.powers@ucdenver.edu
• Study Contact Backup: Name: Janet Talbert, MS, CGC; Phone Number: 1022 1-800-423-8891; Email: talbertj@njhealth.org

Study Locations

• Iceland
  • Reykjavik, Iceland
    • Recruiting
    • Landspitali University Hospital
    • Principal Investigator: Gunnar Gudmundsson, MD
• United States
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • University of Colorado Denver
      • Contact: Julie Powers, MHS; Phone Number: 303-724-6539; Email: julia.powers@ucdenver.edu
      • Contact: Janet Talbert, MS, CGC; Phone Number: 1022 1-800-423-8891; Email: 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
    • Denver, Colorado, United States, 80206
      • Recruiting
      • National Jewish Health and University of Colorado Denver
      • Contact: Julie Powers, MHS; Phone Number: 303-724-6539; Email: julia.powers@ucdenver.edu
      • Principal Investigator: David A. Schwartz, MD
      • Contact: Janet Talbert, MS, CGC; Phone Number: 1022 800-423-8891; Email: talbertj@njhealth.org
      • 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
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Recruiting
      • Vanderbilt University
      • Contact: Cheryl Markin, MT; Phone Number: 888-898-1550; Email: cheryl.markin@vanderbilt.edu
      • Principal Investigator: James E. Loyd, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Families with two or more individuals diagnosed with Idiopathic Pulmonary Fibrosis (IPF) or Idiopathic Interstitial Pneumonia (IIP)

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identify a group of genetic loci that play a role in the development of familial interstitial pneumonia and idiopathic interstitial pneumonia.	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.	10 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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).	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.	10 years

Collaborators and Investigators

• Sponsor: National Jewish Health
• Collaborators: University of Colorado, Denver; Vanderbilt University; Landspitali University Hospital
• Investigators: Principal Investigator: David A. Schwartz, MD, University of Colorado Denver; National Jewish Health

Publications and helpful links

Helpful Links

• Click here to learn more about Familial Pulmonary Fibrosis and this study.

Study record dates

Study Major Dates

• Study Start: July 1, 2008
• Primary Completion (Anticipated): June 1, 2025
• Study Completion (Anticipated): June 1, 2025

Study Registration Dates

• First Submitted: March 15, 2010
• First Submitted That Met QC Criteria: March 16, 2010
• First Posted (Estimate): March 17, 2010

Study Record Updates

• Last Update Posted (Actual): September 14, 2020
• Last Update Submitted That Met QC Criteria: September 11, 2020
• Last Verified: September 1, 2020

More Information

Terms related to this study

• Keywords: Idiopathic Pulmonary Fibrosis; Pulmonary Fibrosis; Familial Pulmonary Fibrosis; Idiopathic Interstitial Pneumonia; Familial Interstitial Pneumonia
• Additional Relevant MeSH Terms: Pathologic Processes; Infections; Respiratory Tract Infections; Respiratory Tract Diseases; Lung Diseases; Fibrosis; Pneumonia; Pulmonary Fibrosis; Idiopathic Pulmonary Fibrosis; Lung Diseases, Interstitial; Idiopathic Interstitial Pneumonias; Hamman-Rich Syndrome
• Other Study ID Numbers: 2R01HL097163 (U.S. NIH Grant/Contract)