Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis
NCT ID: NCT06521125
Last Updated: 2024-07-25
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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NOT_YET_RECRUITING
600 participants
OBSERVATIONAL
2024-09-01
2026-09-01
Brief Summary
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Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of interstitial lung disease. Between 2% and 20% of patients with IPF have a family history of the disease, which is considered the strongest risk factor. Therefore, genetic testing has been increasingly considered as a potential tool to identify patients at risk of developing IPF.
According to some studies, genetic testing (particularly of MUC5B and TERT mutations) could be useful to rapidly identify unidentified and/or asymptomatic individuals (in families as well as in the general population) who have interstitial lung anomalies (ILA) that may indicate a initial stage of pulmonary fibrosis. Finding efficient screening methods and associated targeted treatments for IPF may be essential to improving the prognosis and quality of life of those suffering from this disease.
Objectives of the study:
The study involves two populations of study subjects:
* patients with FPF and sporadic IPF
* first-degree relatives of patients with FPF and sporadic IPF (biological relatives, not spouses)
The primary objective is to determine the prevalence rates of interstitial lung abnormalities in at-risk relatives of patient with IPF and FPF.
Study design:
Multicenter, cross-sectional study without drug and without device conducted in two major Italian tertiary referral hospitals.
The entire project is expected to last 24 months.
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Detailed Description
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Conditions
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Study Design
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FAMILY_BASED
CROSS_SECTIONAL
Study Groups
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Patients with FPF and sporadic IPF
High resolution Computed Tomography (HRCT) scans of the Chest
A chest high-resolution computed tomography (HRCT) scan will be performed
Pulmonary Function Testing (PFTs)
Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed
Digital lung sounds auscultation
Lung sounds will be recorded using a manual approach with a digital stethoscope
Laboratory Assessments
Clinical laboratory tests will be collected from each participant
DNA sequencing
A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing
First-degree relatives of patients with FPF and sporadic IPF
High resolution Computed Tomography (HRCT) scans of the Chest
A chest high-resolution computed tomography (HRCT) scan will be performed
Pulmonary Function Testing (PFTs)
Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed
Digital lung sounds auscultation
Lung sounds will be recorded using a manual approach with a digital stethoscope
Laboratory Assessments
Clinical laboratory tests will be collected from each participant
DNA sequencing
A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing
Interventions
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High resolution Computed Tomography (HRCT) scans of the Chest
A chest high-resolution computed tomography (HRCT) scan will be performed
Pulmonary Function Testing (PFTs)
Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed
Digital lung sounds auscultation
Lung sounds will be recorded using a manual approach with a digital stethoscope
Laboratory Assessments
Clinical laboratory tests will be collected from each participant
DNA sequencing
A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing
Eligibility Criteria
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Inclusion Criteria
2. diagnosis of IPF based on 2022 ATS/ERS/JRS/ALAT Guidelines as confirmed by the investigator based on chest HRCT scan and if available surgical lung biopsy
3. diagnosis of FPF defined as the presence of fibrotic ILD in at least two members of the same biological family
4. at least one 1st degree relative \>40 years of age.
a. subjects aged ≥40 years
Exclusion Criteria
2. unwilling or unable to sign informed consent
Criteria for FIRST DEGREE BIOLOGICAL RELATIVES:
1. previous diagnosis of IPF
2. a history of severe or poorly controlled anxiety, severe or poorly controlled depression according to the opinion of the investigators, suicidal ideation, or other psychiatric illness requiring hospitalization
3. unwilling or unable to sign informed consent 400 first-degree relatives of participating patients will be recruited
18 Years
ALL
Yes
Sponsors
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS
OTHER
Responsible Party
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RICHELDI LUCA
Professor
Central Contacts
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Other Identifiers
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6869
Identifier Type: -
Identifier Source: org_study_id
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