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Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

ConditionsFamilial Pulmonary FibrosisIdiopathic Pulmonary Fibrosis
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

patients aged ≥18 years when signing the informed consent

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

diagnosis of FPF defined as the presence of fibrotic ILD in at least two members of the same biological family

at least one 1st degree relative >40 years of age.

Disqualifiers

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

unwilling or unable to sign informed consent

previous diagnosis of IPF

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

Trial population

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).

Trial design

Design model

Family-based

Time perspective

Cross-sectional

Treatments tested in this trial

  • 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

Treatment groups

600 Participants
are divided into 2 treatment groups
Group A: Patients with FPF and sporadic IPF5 interventions
Group B: First-degree relatives of patients with FPF and sporadic IPF5 interventions

Trial outcomes

Primary outcomes

1

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

Secondary outcomes

1

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

Other outcomes

Locations

This trial has no locations.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Lead sponsor

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: