Actively Recruiting
Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes
Led by Fondazione IRCCS Policlinico San Matteo di Pavia · Updated on 2025-11-26
126
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
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.
CONDITIONS
Brief Title
GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of familial pulmonary fibrosis with at least two first-degree relatives affected
- Definite or probable familial pulmonary fibrosis diagnosis by international criteria
- 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 information
- Unaffected first-degree relatives willing to participate in genetic testing and family history documentation
- Individuals with confirmed idiopathic pulmonary fibrosis enrolled as a comparison group
You will not qualify if you...
- Individuals with isolated, sporadic pulmonary fibrosis not part of the idiopathic pulmonary fibrosis control group
- Presence of other significant pulmonary diseases unrelated to fibrosis (e.g., COPD, asthma, cystic fibrosis, active lung infection)
- Unwillingness to provide or maintain informed consent for participation, genetic testing, or long-term data use
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Within 24 months of enrollment
Participants undergo genetic testing and clinical evaluations to identify pathogenic variants related to pulmonary fibrosis.
1 to 2 visits depending on genetic testing and clinical evaluation needs
Duration - Up to 6 years
Participants are followed longitudinally with retrospective data collection to observe disease progression and genetic findings over time.
Visit schedule varies based on clinical care and follow-up requirements
Trial Site Locations
Total: 1 location
1
Fondazione IRCCS Policlinico San Matteo
Pavia, Lombardy, Italy, 27100
Actively Recruiting
Research Team
I
Ilaria Campo, PhD
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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