Scientists hunt for genetic clues in familial lung disease
NCT ID NCT07251725
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aims to uncover the genetic causes of familial pulmonary fibrosis, a progressive lung disease that runs in families. Researchers will analyze DNA from 126 adults with a family history of the condition, looking for gene changes linked to lung scarring. The goal is to improve early diagnosis, genetic counseling, and eventually develop personalized treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could identify genetic markers that help diagnose familial pulmonary fibrosis earlier and point toward new treatment targets for both familial and idiopathic forms.
- What could go wrong
- This is an observational genetic study, not a treatment trial. It may not directly lead to new therapies, and findings may not apply to all patients with pulmonary fibrosis.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 126 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Sep 2025
- Expected to finish
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Sep 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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)
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Fondazione IRCCS Policlinico San Matteo
RECRUITINGPavia, Lombardy, 27100, Italy
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