NCT07251725 GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
| NCT ID | NCT07251725 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Fondazione IRCCS Policlinico San Matteo di Pavia |
| Condition | Familial Pulmonary Fibrosis |
| Study Type | OBSERVATIONAL |
| Enrollment | 126 participants |
| Start Date | 2025-09-17 |
| Primary Completion | 2028-09 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 126 participants in total. It began in 2025-09-17 with a primary completion date of 2028-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility Criteria
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 obstructive pulmonary disease, asthma, cystic fibrosis, or active pulmonary infection). Refusal or Withdrawal of Consent: Individuals unwilling to provide or maintain informed consent for participation, genetic testing, or long-term data use.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07251725 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Familial Pulmonary Fibrosis. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07251725 currently recruiting?
Yes, NCT07251725 is actively recruiting participants. Contact the research team at i.campo@smatteo.pv.it for enrollment information.
Where is the NCT07251725 trial being conducted?
This trial is being conducted at Pavia, Italy.
Who is sponsoring the NCT07251725 clinical trial?
NCT07251725 is sponsored by Fondazione IRCCS Policlinico San Matteo di Pavia. The trial plans to enroll 126 participants.