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

National Jewish Health

Status: Enrolling

Conditions: Familial Interstitial Pneumonia; Idiopathic Pulmonary Fibrosis; Familial Pulmonary Fibrosis; Idiopathic Interstitial Pneumonia

Study type: Observational

Funder types: Other

Identifiers

NCT01088217

2R01HL097163

Details and patient eligibility

About

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.

Full 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.

Enrollment: 8,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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