Familial Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis
Conditions
Brief summary
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: * 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.
Interventions
DIAGNOSTIC_TESTHigh resolution Computed Tomography (HRCT) scans of the Chest
A chest high-resolution computed tomography (HRCT) scan will be performed
DIAGNOSTIC_TESTPulmonary Function Testing (PFTs)
Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed
DIAGNOSTIC_TESTDigital lung sounds auscultation
Lung sounds will be recorded using a manual approach with a digital stethoscope
DIAGNOSTIC_TESTLaboratory Assessments
Clinical laboratory tests will be collected from each participant
GENETICDNA sequencing
A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing
Sponsors
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
Criteria for PATIENTS: Inclusion Criteria: 1. patients aged ≥18 years when signing the informed consent 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.
Exclusion criteria
1. patients with Interstitial Lung Diseases other than Idiopathic Pulmonary Fibrosis, including but not limited to patients with granulomatous lung disease, autoimmune/collagen vascular disease associated interstitial lung disease, and drug induced interstitial lung disease 2. unwilling or unable to sign informed consent Criteria for FIRST DEGREE BIOLOGICAL RELATIVES: Inclusion Criteria: a. subjects aged ≥40 years
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of ILA | At subject enrollment | The prevalence of ILA in first-degree relatives of patients with IPF, expressed as proportion of subjects with ILAs in the overall relatives population |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Association between ILA and genetic variants | At subject enrollment | 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 |
Contacts
Primary ContactLuca Richeldi
Outcome results
None listed