NCT07251725

Recruiting

GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis

Fondazione IRCCS Policlinico San Matteo di Pavia Source

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Other study identifiers

Sponsor study identifier

GEN-FPF

Study Type

observational

Estimated enrollment

126

Locations

1 country

Sites

1

Timeline

Study Start

September 17, 2025

Actual (reported)

Primary Completion

September 2028

Estimated

Planned date reported by the registry; this milestone is not confirmed as achieved.

Study Completion

September 2028

Estimated

Planned date reported by the registry; this milestone is not confirmed as achieved.

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.

Registry Overview

Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.

Recruitment status: recruiting
Estimated enrollment: 126 participants
Study completion date: September 2028
Estimated
Planned date reported by the registry; this milestone is not confirmed as achieved.
Listed locations: 1 countries · 1 sites

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.

Study Start
September 17, 2025
Actual (reported)
First Submitted
September 25, 2025
Actual (reported)
First Posted
November 26, 2025
Actual (reported)
Primary Completion
September 2028
Estimated
Planned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
September 2028
Estimated
Planned date reported by the registry; this milestone is not confirmed as achieved.

Last Updated: November 26, 2025
Status Verified: September 2025
Last Update Submitted: November 24, 2025

Conditions

Familial Pulmonary Fibrosis

Outcome Measures

Primary Outcomes (1)

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.
within 24 months of participant enrollment

Study Arms (2)

FPF

Familial Pulmonary Fibrosis

IPF

idiopathic pulmonary fibrosis

Eligibility Criteria

Age18 Years+

Sexall

Healthy VolunteersYes

Age GroupsAdult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

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)

You may qualify if:

Sponsors & Collaborators

Fondazione IRCCS Policlinico San Matteo di Pavia
Otherlead

Study Sites (1)

Fondazione IRCCS Policlinico San Matteo

Pavia, Lombardy, 27100, Italy

RECRUITING

Ilaria CampoCONTACT+39 0382 501007 i.campo@smatteo.pv.it

Biospecimen

Retention: SAMPLES WITH DNA

EDTA blood

Central Study Contacts

Ilaria Campo, PhD

CONTACT

+39 0382 501007 i.campo@smatteo.pv.it

Study Design

Study Type: observational
Observational Model: OTHER
Time Perspective: OTHER
Sponsor Type: OTHER
Responsible Party: PRINCIPAL INVESTIGATOR
PI Title: MD

Study Record Dates

First Submitted

September 25, 2025

First Posted

November 26, 2025

Study Start

September 17, 2025

Actual (reported)

Primary Completion

September 2028

Estimated

Planned date reported by the registry; this milestone is not confirmed as achieved.

NCT01088217

Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF)

Unknown

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.

You may not qualify if:

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 the study team to confirm eligibility.

Study Completion

September 2028

Estimated

Planned date reported by the registry; this milestone is not confirmed as achieved.

Last Updated

November 26, 2025

Record last verified: 2025-09

Data Sharing

IPD Sharing: Will not share

Source record

Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.

Source: ClinicalTrials.gov.

JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.

Registry identifier: NCT07251725
Data provider: ClinicalTrials.gov
Source updated: 2025-11-26
Normalization version: ctgov-legacy-1

Open registry record

Source retrieved: 2026-10-25 22:32:05 UTC

Locations

IT(1)

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Outcome Measures

Primary Outcomes (1)

Study Arms (2)

FPF

IPF

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations