Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

Sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study ID
NCT06521125
Status
Not Yet Recruiting

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Conditions

  • Familial Pulmonary Fibrosis
  • Idiopathic Pulmonary Fibrosis

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Accepted

Interventions

  • High resolution Computed Tomography (HRCT) scans of the Chest — DIAGNOSTIC_TEST
    A chest high-resolution computed tomography (HRCT) scan will be performed
  • Pulmonary Function Testing (PFTs) — DIAGNOSTIC_TEST
    Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed
  • Digital lung sounds auscultation — DIAGNOSTIC_TEST
    Lung sounds will be recorded using a manual approach with a digital stethoscope
  • Laboratory Assessments — DIAGNOSTIC_TEST
    Clinical laboratory tests will be collected from each participant
  • DNA sequencing — GENETIC
    A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing

Study Details

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.

Key Dates

First listed
Jul 25, 2024
Start date
Sep 1, 2024
Status verified
Jul 2024
Primary completion
Sep 1, 2026
Completion
Sep 1, 2026

Study Design

Enrollment
600 participants (estimated)

Arms

  • Arm: Patients with FPF and sporadic IPF
  • Arm: First-degree relatives of patients with FPF and sporadic IPF

Primary Outcome Measure

Prevalence of ILA [ Time Frame: At subject enrollment ]

Central Contacts

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