Finding genes linked to familial pulmonary fibrosis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.