GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Familial Pulmonary Fibrosis. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes
Overview
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.
Detailed description
observational study , longitudinal retrospective
Primary outcome measures
- Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS) [Time frame: within 24 months of participant enrollment]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Other
Study locations
Italy · 1 center
- Fondazione IRCCS Policlinico San Matteo — Pavia
Identifiers
NCT: NCT07251725 · GEN-FPF