Actively Recruiting
GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
Led by Fondazione IRCCS Policlinico San Matteo di Pavia · Updated on 2025-11-26
126
Participants Needed
1
Research Sites
154 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- At least two first-degree family members diagnosed with pulmonary fibrosis based on clinical, radiological, or histopathological criteria
- Definite or probable diagnosis of familial pulmonary fibrosis with verified family history
- Adults aged 18 years or older at enrollment
- Ability and willingness to provide written informed consent
- Willingness to participate in genetic testing, clinical evaluations, and follow-up
- Availability of affected family members to provide blood samples and clinical data
- Availability of unaffected first-degree relatives for genetic testing and family history documentation
- Individuals with confirmed idiopathic pulmonary fibrosis enrolled as a comparative cohort
You will not qualify if you...
- Individuals with isolated, sporadic pulmonary fibrosis not part of the idiopathic pulmonary fibrosis control group
- Presence of significant pulmonary diseases unrelated to fibrosis such as chronic obstructive pulmonary disease, asthma, cystic fibrosis, or active pulmonary infection
- Refusal or withdrawal of consent for participation, genetic testing, or long-term data use
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Fondazione IRCCS Policlinico San Matteo
Pavia, Lombardy, Italy, 27100
Actively Recruiting
Research Team
I
Ilaria Campo, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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