Genetic Study of Familial Pulmonary Fibrosis Using Advanced Sequencing to Understand Fibrosis and Surfactant Disorders

What this Trial Is About

Pulmonary fibrosis PF is a lung disease that causes scarring and difficulty breathing. Familial pulmonary fibrosis FPF accounts for 10-20% of PF cases and shares similarities with idiopathic pulmonary fibrosis IPF, though the genetic causes of FPF are not fully known. This study aims to explore the genetic factors behind FPF by studying families with multiple affected members, focusing on genes related to tissue scarring and surfactant disorders to better understand early diagnosis, disease progression, and treatment possibilities. This observational, longitudinal retrospective study includes two groups those with familial pulmonary fibrosis and those with idiopathic pulmonary fibrosis as a comparison group. Researchers will analyze genetic samples using next-generation sequencing to identify genetic variants linked to the disease. Participants will undergo genetic testing, clinical evaluations, and provide family history information, with blood samples collected from affected and unaffected family members for analysis. Participants will be followed over time with ongoing evaluations and genetic testing to track disease progression and outcomes. The main measurement is the number and type of genetic variants found within 24 months of enrollment. The study involves informed consent and includes adults aged 18 and older. Researchers aim to improve genetic counseling, early diagnosis, and potential personalized treatments for both familial and idiopathic forms of pulmonary fibrosis, with study participation lasting at least two years.

GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis