Family history is the strongest risk factor for pulmonary fibrosis, and at least one in five patients with pulmonary fibrosis have a family history of interstitial lung disease. For more than 20 years, we have worked to identify the genes that confer susceptibility to pulmonary fibrosis with the goal of developing new and better treatments for this disease.
Finding a pulmonary fibrosis gene
This study is for anyone with pulmonary fibrosis or a family history of multiple family members with pulmonary fibrosis. The purpose of this study is to identify the cause of pulmonary fibrosis by identifying a responsible gene. Using DNA from blood specimens of pulmonary fibrosis patients and family members we will try to identify a gene responsible for IPF. Identification of a gene may help in understanding the disease process and may lead to improved therapy. You will be asked to complete a questionnaire about your exposures and symptoms, and to provide your medical records with a family history, and to loan tissue or paraffin blocks from prior biopsies to us. You will have blood drawn (about 3 tablespoons) and donated to us to isolate DNA (genetic material).
Mechanisms of familial pulmonary fibrosis
This research study is open to people who have had family members diagnosed with idiopathic pulmonary fibrosis (IPF), a serious disease that results in scarring of the lung and breathing problems. Sometimes, this lung disease appears to be familial in nature, in other words, it can “run in the family”. The purpose of this research study is to perform tests to learn whether we can find signs and symptoms of IPF in children, brothers and sisters and other family members of patients with IPF early in the disease, and to try to figure out what might be responsible for the lung disease. Over 4-5 years, about 500 family members of previous IPF patients will be asked to participate in the study. You will be asked to complete a questionnaire and based on the information you provide in the questionnaire, you may qualify to come to Vanderbilt for two study visits every 5 years for testing. This study also provides a CT scan and pulmonary function tests at Vanderbilt for members of IPF families at no charge.
Enrollment Criteria:
– Family members between ages 40-70 years
– Family members who have no known serious diseases
– Multiple members of your family have had pulmonary fibrosis, including a parent or sibling
If you are interested in helping medical science in these studies, please contact the study coordinators (Cheryl.Markin@vumc.org or Katrina.Douglas@vumc.org) or phone toll free 1-888-898-1550.