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

• ClinicalTrials.gov Identifier: NCT01088217
• Recruitment Status: Recruiting
• First Posted: March 17, 2010
• Last Update Posted: September 14, 2020
• Sponsor: National Jewish Health
• Collaborators: University of Colorado, Denver; Vanderbilt University; Landspitali University Hospital
• Information provided by (Responsible Party): National Jewish Health

Study Description

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 Design

• 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 2025
• Estimated Study Completion Date: June 2025

Groups and Cohorts

Outcome Measures

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

Eligibility Criteria

• 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

Contacts and Locations

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

More Information

Additional Information:

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

• Responsible Party: National Jewish Health
• ClinicalTrials.gov Identifier: NCT01088217
• Other Study ID Numbers: 2R01HL097163 ( U.S. NIH Grant/Contract )
• First Posted: March 17, 2010
• Last Update Posted: September 14, 2020
• Last Verified: September 2020

Keywords provided by National Jewish Health:

Idiopathic Pulmonary Fibrosis; Familial Pulmonary Fibrosis; Idiopathic Interstitial Pneumonia; Familial Interstitial Pneumonia; Pulmonary Fibrosis

Additional relevant MeSH terms:

Pneumonia; Pulmonary Fibrosis; Idiopathic Pulmonary Fibrosis; Lung Diseases, Interstitial; Idiopathic Interstitial Pneumonias; Hamman-Rich Syndrome; Fibrosis; Pathologic Processes; Respiratory Tract Infections; Infections; Lung Diseases; Respiratory Tract Diseases