Mechanisms of Familial Pulmonary Fibrosis

What this Trial Is About

Researchers are conducting a long-term observational study focused on first-degree family members of patients diagnosed with familial interstitial pneumonia (FIP), a hereditary form of idiopathic pulmonary fibrosis (IPF). FIP is characterized by at least two blood relatives with idiopathic interstitial pneumonia. The study aims to better understand the natural history of FIP and identify risk factors for developing symptoms, as individuals have about a 50% chance of carrying a disease-related gene. The study expects to follow participants yearly through age 75 or until symptomatic FIP develops. Participants without prior lung disease and with mild or no shortness of breath will be invited to undergo evaluations including high-resolution CT scans, pulmonary function tests, and blood draws. Over the years 2024-2029, additional questionnaires, urine samples, and wearable device use will explore environmental influences. Every three years, participants may return for repeat testing to monitor changes that could predict pulmonary fibrosis development. Subjects with more severe symptoms or extensive disease findings will be advised to seek clinical evaluation outside the study. Throughout participation, researchers will collect demographic and medical history data, and annually check for new respiratory symptoms, diagnostic testing, or treatments related to lung disease. If symptoms develop, medical records and imaging will be reviewed by specialists to classify disease status. The main outcome measured is the clinical diagnosis of interstitial lung disease, with follow-up expected to last about 10 years and up to six total collections of blood, CT scans, and lung function tests per participant.

Mechanisms of Familial Pulmonary Fibrosis