NCT07251725

GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis

Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 126 (estimated)
• Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

Pulmonary fibrosis (PF) is a progressive lung disease marked by tissue scarring and impaired breathing. Familial pulmonary fibrosis (FPF) makes up 10-20% of PF cases and shares features with idiopathic PF (IPF), but the genetic causes of FPF are not fully understood. This study focuses on uncovering the genetic basis of FPF by analyzing families with multiple affected members. It targets genes involved in fibrogenesis and surfactant disorders, as familial cases often appear earlier and progress more rapidly than sporadic ones. Understanding FPF genetics could: 1. Identify new genetic markers for early diagnosis and prognosis. 2. Improve genetic counseling and preventive strategies for affected families. 3. Reveal therapeutic targets for personalized treatments. 4. Highlight shared molecular pathways between familial and idiopathic PF, potentially benefiting a broader patient group. In summary, the study aims to deepen our understanding of FPF genetics to improve diagnosis, counseling, and treatment for both familial and idiopathic forms of pulmonary fibrosis.

Detailed description

observational study , longitudinal retrospective

Conditions

• Familial Pulmonary Fibrosis

Timeline

• Start date: 2025-09-17
• Primary completion: 2028-09-01
• Completion: 2028-09-01
• First posted: 2025-11-26
• Last updated: 2025-11-26

Locations

1 site across 1 country: Italy