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Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

 Yes
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

 Observational
Eligible Ages 18 Years and Over
Gender All
More Inclusion & Exclusion Criteria

Criteria for PATIENTS:

Inclusion Criteria:

1. patients aged ≥18 years when signing the informed consent. 2. 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. 3. diagnosis of FPF defined as the presence of fibrotic ILD in at least two members of the same biological family. 4. at least one 1st degree relative >40 years of age.

Exclusion Criteria:

1. 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. 2. unwilling or unable to sign informed consent.Criteria for FIRST DEGREE BIOLOGICAL RELATIVES:

Inclusion Criteria:

a. subjects aged ≥40 years.

Exclusion Criteria:

1. previous diagnosis of IPF. 2. 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. 3. unwilling or unable to sign informed consent 400 first-degree relatives of participating patients will be recruited

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

 NCT06521125
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

 Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

 N/A
Principal Investigator Affiliation N/A
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

 Other
Overall Status Not yet recruiting
Countries
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

 Familial Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis
Arms & Interventions

Arms

: Patients with FPF and sporadic IPF

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

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

Contact Information

This trial has no sites locations listed at this time. If you are interested in learning more, you can contact the trial's primary contact:

Luca Richeldi

[email protected]

0630157857

For additional contact information, you can also visit the trial on clinicaltrials.gov.

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