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NCT Number: NCT06521125

Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

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.

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Key information

Conditions

Familial Pulmonary Fibrosis Idiopathic Pulmonary Fibrosis Lung Diseases Lung Diseases, Interstitial Pulmonary Fibrosis Respiratory Tract Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Criteria for PATIENTS:

Inclusion criteria

  • 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.

Exclusion criteria

  • 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

Criteria for FIRST DEGREE BIOLOGICAL RELATIVES:

Inclusion criteria

a. subjects aged ≥40 years

Exclusion criteria

  • 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
  • unwilling or unable to sign informed consent 400 first-degree relatives of participating patients will be recruited

Treatment and study plan

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

Primary outcomes

  1. Prevalence of ILA

    Time frame: 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 outcomes

  1. Association between ILA and genetic variants

    Time frame: 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

Study contacts

Contact information is provided by the study sponsor or research team.

Luca Richeldi

CONTACT

[email protected]

0630157857

Sponsors and collaborators

Lead sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Other

Registry information

Acronym: GENESI

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Jul 25, 2024
Registry last updated
Jul 25, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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