Finding genes linked to familial pulmonary fibrosis
Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes
Fondazione IRCCS Policlinico San Matteo di Pavia · NCT07251725
This project will test whether analyzing the genes of adults from families with multiple cases of pulmonary fibrosis can uncover genetic causes and help guide diagnosis and family counseling.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 126 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione IRCCS Policlinico San Matteo di Pavia (other) |
| Locations | 1 site (Pavia, Lombardy) |
| Trial ID | NCT07251725 on ClinicalTrials.gov |
What this trial studies
GEN-FPF is an observational, longitudinal and retrospective genetic study of families with multiple members affected by pulmonary fibrosis. Researchers will collect blood samples and clinical records from affected and unaffected first-degree relatives and perform targeted and broader genetic sequencing with emphasis on fibrogenesis and surfactant-related genes. Data will be analyzed for inherited variants, genotype-phenotype correlations, and shared molecular pathways with idiopathic pulmonary fibrosis. The goal is to identify genetic markers for earlier diagnosis, improve prognostic counseling, and suggest potential therapeutic targets.
Who should consider this trial
Good fit: Ideal participants are adults (18+) from families with at least two first-degree relatives diagnosed with pulmonary fibrosis who can give consent and provide blood samples and medical records.
Not a fit: Patients with sporadic pulmonary fibrosis without a family history, minors, or those unwilling or unable to provide samples or consent are unlikely to benefit from this genetic-focused effort.
Why it matters
Potential benefit: If successful, this work could enable earlier genetic diagnosis, better family counseling, and point to targets for personalized treatments.
How similar studies have performed: Previous research has identified causative genes (including telomere- and surfactant-related genes) in familial pulmonary fibrosis, so this work builds on established findings rather than testing a wholly unproven approach.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Pavia, Lombardy
- Fondazione IRCCS Policlinico San Matteo — Pavia, Lombardy, Italy (RECRUITING)
Study contacts
- Study coordinator: Ilaria Campo, PhD
- Email: i.campo@smatteo.pv.it
- Phone: +39 0382 501007
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Familial Pulmonary Fibrosis