GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
Italy126 participantsStarted 2025-09-17
Plain-language 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.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
Diagnosis of Familial Pulmonary Fibrosis (FPF):
At least two individuals from the same family (first-degree relatives) diagnosed with pulmonary fibrosis based on clinical, radiological, or histopathological criteria (e.g., HRCT pattern consistent with usual interstitial pneumonia, UIP).
Definite or probable FPF diagnosis, according to international classification criteria and verified family history of disease.
Age:
Adults aged 18 years or older at the time of enrollment.
Informed Consent:
Ability and willingness to provide written informed consent (or consent provided by a legally authorized representative).
Willingness to participate in genetic testing, clinical evaluations, and longitudinal follow-up.
Availability of Family Members:
Affected family members with pulmonary fibrosis willing to provide blood samples and clinical information.
Unaffected first-degree relatives willing to participate in genetic testing and family history documentation.
Idiopathic Pulmonary Fibrosis (IPF) Cohort:
Individuals with a confirmed diagnosis of idiopathic pulmonary fibrosis (IPF) according to ATS/ERS 2018 criteria, enrolled as a comparative (non-familial) cohort.
Exclusion Criteria:
Non-Familial Pulmonary Fibrosis:
Individuals with isolated, sporadic pulmonary fibrosis (without a family history) who are not part of the defined IPF control group.
Other Significant Pulmonary Diseases:
Presence of pulmonary diseases unrelated to fibrosis (e.g., chronic …
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS)
Timeframe: within 24 months of participant enrollment
Trial details
NCT IDNCT07251725
SponsorFondazione IRCCS Policlinico San Matteo di Pavia