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Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

NCT06521125 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2024-07-25

No results posted yet for this study

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.

Conditions

Interventions

DIAGNOSTIC_TEST

High resolution Computed Tomography (HRCT) scans of the Chest

A chest high-resolution computed tomography (HRCT) scan will be performed

DIAGNOSTIC_TEST

Pulmonary Function Testing (PFTs)

Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed

DIAGNOSTIC_TEST

Digital lung sounds auscultation

Lung sounds will be recorded using a manual approach with a digital stethoscope

DIAGNOSTIC_TEST

Laboratory Assessments

Clinical laboratory tests will be collected from each participant

GENETIC

DNA sequencing

A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-09-01
Primary Completion
2026-09-01
Completion
2026-09-01

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06521125 on ClinicalTrials.gov