Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

NCT06521125 | Not Yet Recruiting

• 1 other identifier: 6869
• Study Type: observational
• Target: 600
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Familial Pulmonary Fibrosis; Idiopathic Pulmonary Fibrosis

Outcome Measures

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

  At subject enrollment

Secondary Outcomes (1)

• Association between ILA and genetic variants

  At subject enrollment

Study Arms (2)

Patients with FPF and sporadic IPF

Diagnostic Test: High resolution Computed Tomography (HRCT) scans of the Chest; Diagnostic Test: Pulmonary Function Testing (PFTs); Diagnostic Test: Digital lung sounds auscultation; Diagnostic Test: Laboratory Assessments; Genetic: DNA sequencing

First-degree relatives of patients with FPF and sporadic IPF

Diagnostic Test: High resolution Computed Tomography (HRCT) scans of the Chest; Diagnostic Test: Pulmonary Function Testing (PFTs); Diagnostic Test: Digital lung sounds auscultation; Diagnostic Test: Laboratory Assessments; Genetic: DNA sequencing

Interventions

High resolution Computed Tomography (HRCT) scans of the Chest DIAGNOSTIC_TEST

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

First-degree relatives of patients with FPF and sporadic IPF; Patients with FPF and sporadic IPF

Pulmonary Function Testing (PFTs) DIAGNOSTIC_TEST

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

First-degree relatives of patients with FPF and sporadic IPF; Patients with FPF and sporadic IPF

Digital lung sounds auscultation DIAGNOSTIC_TEST

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

First-degree relatives of patients with FPF and sporadic IPF; Patients with FPF and sporadic IPF

Laboratory Assessments DIAGNOSTIC_TEST

Clinical laboratory tests will be collected from each participant

First-degree relatives of patients with FPF and sporadic IPF; Patients with FPF and sporadic IPF

DNA sequencing GENETIC

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

First-degree relatives of patients with FPF and sporadic IPF; Patients with FPF and sporadic IPF

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study 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).

You may qualify if:

• 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.

You may not qualify if:

• 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:
• a. subjects aged ≥40 years
• 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

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

MeSH Terms

Conditions

Idiopathic Pulmonary Fibrosis

Interventions

Respiratory Function Tests; Sequence Analysis, DNA

Condition Hierarchy (Ancestors)

Pulmonary Fibrosis; Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques, Respiratory System; Diagnostic Techniques and Procedures; Diagnosis; Sequence Analysis; Genetic Techniques; Investigative Techniques

Central Study Contacts

Luca Richeldi

CONTACT

0630157857; luca.richeldi@policlinicogemelli.it

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: July 16, 2024
• First Posted: July 25, 2024
• Study Start: September 1, 2024
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: July 25, 2024

Record last verified: 2024-07