Familial Pulmonary FibrosisGEN-FPFNCT07251725
GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
An observational study of Familial Pulmonary Fibrosis, run by Fondazione IRCCS Policlinico San Matteo di Pavia at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Familial Pulmonary Fibrosis
- How many people
- 126 participants
- Where
- 1 siteItaly
- Study dates
- 17 Sep 2025to Sep 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study population includes individuals diagnosed with familial pulmonary fibrosis (FPF) and their first-degree relatives (affected and unaffected), as well as a comparison cohort of idiopathic pulmonary fibrosis (IPF) patients. Participants will be recruited from two Italian centers: SC Pneumologia, Fondazione IRCCS Policlinico San Matteo (Pavia) Azienda Ospedaliero Universitaria Careggi (Florence)
Who may be able to join
- 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:
Show all 13Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Fondazione IRCCS Policlinico San Matteo
Pavia, Lombardy, 27100
Ilaria Campo, +39 0382 501007, i.campo@smatteo.pv.it
About this study
Official title: Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes
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.
Read more
Understanding FPF genetics could:
- Identify new genetic markers for early diagnosis and prognosis.
- Improve genetic counseling and preventive strategies for affected families.
- Reveal therapeutic targets for personalized treatments.
- 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.
Read the detailed description
observational study , longitudinal retrospective
- Conditions
- Familial Pulmonary Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| FPF | Familial Pulmonary Fibrosis | |
| IPF | idiopathic pulmonary fibrosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS)
dentification and classification of genetic variants detected in genes associated with familial pulmonary fibrosis (FPF) and surfactant metabolism (e.g., SFTPC, SFTPA2, ABCA3, MUC5B). Variants will be classified according to ACMG guidelines and reported as counts and frequencies in the study population.
Measured: within 24 months of participant enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Nov 2025
- Study start17 Sep 2025
- Primary completionSep 2028 (estimated)
- Study completionSep 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Pulmonary FibrosisStudies of the same condition, open and under way.
- More trials run by Fondazione IRCCS Policlinico San Matteo di PaviaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 126 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ilaria Campo, Fondazione IRCCS Policlinico San Matteo di Pavia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07251725
- Sponsor's protocol ID
- GEN-FPF
- Acronym
- GEN-FPF
- Status last verified
- Sep 2025
- First submitted
- 25 Sep 2025
- Last updated
- 26 Nov 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Unravelling the Genetic Basis of Familial Pulmonary Fibrosis: A Next-Generation Sequencing Approach to Fibrogenesis and Surfactant Disorder Genes
- ClinicalTrials.gov ID
- NCT07251725
- Acronym / sponsor ID
- GEN-FPF / GEN-FPF
- Conditions
- Familial Pulmonary Fibrosis
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 126 participants (estimated)
- Lead sponsor
- Fondazione IRCCS Policlinico San Matteo di PaviaUniversity, hospital or other
- Study start
- 17 Sep 2025 (actual)
- Primary completion
- Sep 2028 (estimated)
- Study completion
- Sep 2028 (estimated)
- First posted
- 26 Nov 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Identify new genetic markers for early diagnosis and prognosis.
- Improve genetic counseling and preventive strategies for affected families.
- Reveal therapeutic targets for personalized treatments.
- 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
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| FPF | – | –Familial Pulmonary Fibrosis |
| IPF | – | –idiopathic pulmonary fibrosis |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The study population includes individuals diagnosed with familial pulmonary fibrosis (FPF) and their first-degree relatives (affected and unaffected), as well as a comparison cohort of idiopathic pulmonary fibrosis (IPF) patients. Participants will be recruited from two Italian centers: SC Pneumologia, Fondazione IRCCS Policlinico San Matteo (Pavia) Azienda Ospedaliero Universitaria Careggi (Florence)
Key inclusion criteria (13 listed)
- 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.
- Adults aged 18 years or older at the time of enrollment.
- 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.
Key exclusion criteria (6 listed)
- Individuals with isolated, sporadic pulmonary fibrosis (without a family history) who are not part of the defined IPF control group.
- Presence of pulmonary diseases unrelated to fibrosis (e.g., chronic obstructive pulmonary disease, asthma, cystic fibrosis, or active pulmonary infection).
- Individuals unwilling to provide or maintain informed consent for participation, genetic testing, or long-term data use.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS)
Time frame: within 24 months of participant enrollment
dentification and classification of genetic variants detected in genes associated with familial pulmonary fibrosis (FPF) and surfactant metabolism (e.g., SFTPC, SFTPA2, ABCA3, MUC5B). Variants will be classified according to ACMG guidelines and reported as counts and frequencies in the study population.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Nov 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Pulmonary Fibrosis, run by Fondazione IRCCS Policlinico San Matteo di Pavia at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ilaria Campo, PhD (+39 0382 501007, i.campo@smatteo.pv.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS) (time frame: within 24 months of participant enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Nov 2025.