Mechanisms of Familial Pulmonary Fibrosis
Vanderbilt University Medical Center
Summary
This a prospective, longitudinal study of first-degree family members of patients diagnosed with familial interstitial pneumonia (FIP). FIP is the familial form of idiopathic pulmonary fibrosis (IPF), which is defined as 2 or more bloodline relatives which have a diagnosis of idiopathic interstitial pneumonia (IIP). The most common form of idiopathic interstitial pneumonia in FIP families is IPF (approximately 70%). The inheritance pattern in FIP is consistent with autosomal dominant inheritance with incomplete penetrance. Therefore, individuals in this study have approximately 50% risk of carrying a disease-associated allele. The causative gene is currently only known approximately 20% of families. The main goal of this longitudinal study is to better establish the natural history of FIP and to identify risk factors for later development of symptomatic disease. The investigators' plan is to follow these at-risk individuals with yearly questionnaires and planned in person 2 year follow-ups through age 75 or until they develop symptomatic FIP.
Description
Potential research subjects will be sent a questionnaire (modified version of the ATS-DLD-78 questionnaire) and study consent form. Individuals with no prior history of lung disease and a dyspnea score of 2 or less will be offered the opportunity to undergo further research evaluation, which will include HRCT scanning, pulmonary function testing (PFTs) and blood draw. During the years 2024-2029, these visits will also contain an additional questionnaire, a urine specimen, and the use of wearable devices to further investigate the environmental factors that may contribute to pulmonary fibrosis.…
Eligibility
- Age range
- 40–75 years
- Sex
- All
- Healthy volunteers
- No
Eligibility Requirements: 1. Bloodline members of an affected individual from a family in which two or more members of a family are known to have Idiopathic Interstitial Pneumonia (IIP) and who have no personal diagnosis of IIP or IPF 2. Sibling or adult child of an affected individual Exclusion Criteria: 1. Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB). 2. Inability to travel to Nashville for 1-2 outpatient visits and/or complete a written or online ve…
Location
- Vanderbilt University Medical CenterNashville, Tennessee