An observational study in Familial Pulmonary Fibrosis and Idiopathic Pulmonary Fibrosis, sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Not yet recruiting. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-07-25.
Sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Observational
Background:
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:
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.
680 studies on the registry are indexed under Pulmonary Fibrosis; 119 are open to participants now.
This study's planned enrollment of 600 is above the median of 130 across 229 observational studies indexed under Pulmonary Fibrosis.
Browse Pulmonary Fibrosis studies →Fondazione Policlinico Universitario Agostino Gemelli IRCCS is the lead sponsor of 920 studies on the registry; 529 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The study involves two populations of study subjects:
Criteria for PATIENTS:
Inclusion Criteria:
Exclusion Criteria:
Criteria for FIRST DEGREE BIOLOGICAL RELATIVES:
Inclusion Criteria:
a. subjects aged ≥40 years
Exclusion Criteria:
Diagnostic Test: High resolution Computed Tomography (HRCT) scans of the Chest · Diagnostic Test: Pulmonary Function Testing (PFTs) · Diagnostic Test: Digital lung sounds auscultation · Diagnostic Test: Laboratory Assessments · Genetic: DNA sequencing
Diagnostic Test: High resolution Computed Tomography (HRCT) scans of the Chest · Diagnostic Test: Pulmonary Function Testing (PFTs) · Diagnostic Test: Digital lung sounds auscultation · Diagnostic Test: Laboratory Assessments · Genetic: DNA sequencing
A chest high-resolution computed tomography (HRCT) scan will be performed
Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed
Lung sounds will be recorded using a manual approach with a digital stethoscope
Clinical laboratory tests will be collected from each participant
A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing
Prevalence of ILA
The prevalence of ILA in first-degree relatives of patients with IPF, expressed as proportion of subjects with ILAs in the overall relatives population
Time frame: At subject enrollment
Association between ILA and genetic variants
To assess the risk of ILA in first-degree relatives of patients with FPF and sporadic IPF associated with clinically relevant mutations. Univariate and multivariate logistic regression analysis will be utilized to assess the association between genetic variants and ILA
Time frame: At subject enrollment
No study locations are listed for this record.
This study is not yet recruiting, as verified in Jul 2024. You cannot join it, but the record below documents what was studied.
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS