Familial Pulmonary FibrosisGENESINCT06521125
Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis
An observational study of Familial Pulmonary Fibrosis and Idiopathic Pulmonary Fibrosis, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Familial Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis
- What is being tested?
- High resolution Computed Tomography (HRCT) scans of the Chest, Pulmonary Function Testing (PFTs) and Digital lung sounds auscultation
- How many people
- 600 participants
- Where
- No sites listed yet
- Study dates
- 1 Sep 2024to 1 Sep 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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).
Who may be able to join
- 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.
- subjects aged ≥40 years
Who cannot join
- 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:
- 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
Trial locations and contacts
No sites are listed yet.
About this study
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.
Read more
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.
- Being tested
- High resolution Computed Tomography (HRCT) scans of the Chest, Pulmonary Function Testing (PFTs), Digital lung sounds auscultation, Laboratory Assessments, DNA sequencing
- Medical subject headings
- Idiopathic Pulmonary Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
High resolution Computed Tomography (HRCT) scans of the ChestDiagnostic 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 auscultationDiagnostic test
Lung sounds will be recorded using a manual approach with a digital stethoscope
Laboratory AssessmentsDiagnostic test
Clinical laboratory tests will be collected from each participant
DNA sequencingGenetic
A sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing
| Study group | Role | What they receive |
|---|---|---|
| Patients with FPF and sporadic IPF | Not described Receives: 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 | Not described Receives: 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: At subject enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jul 2024
- Study start1 Sep 2024 (estimated)
- Primary completion1 Sep 2026 (estimated)
- Study completion1 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Pulmonary FibrosisStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, RICHELDI LUCA, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06521125
- Sponsor's protocol ID
- 6869
- Acronym
- GENESI
- Status last verified
- Jul 2024
- First submitted
- 16 Jul 2024
- Last updated
- 25 Jul 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis
- ClinicalTrials.gov ID
- NCT06521125
- Acronym / sponsor ID
- GENESI / 6869
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 1 Sep 2024 (estimated)
- Primary completion
- 1 Sep 2026 (estimated)
- Study completion
- 1 Sep 2026 (estimated)
- First posted
- 25 Jul 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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).
Key inclusion criteria (5 listed)
- 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.
- subjects aged ≥40 years
Key exclusion criteria (6 listed)
- 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
- unwilling or unable to sign informed consent 400 first-degree relatives of participating patients will be recruited
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| High resolution Computed Tomography (HRCT) scans of the ChestA chest high-resolution computed tomography (HRCT) scan will be performed | Diagnostic test | First-degree relatives of patients with FPF and sporadic IPF, Patients with FPF and sporadic IPF |
| Pulmonary Function Testing (PFTs)Spirometry and diffusing capacity of the lung for carbon monoxide (DLCO) measurements will be performed | Diagnostic test | First-degree relatives of patients with FPF and sporadic IPF, Patients with FPF and sporadic IPF |
| Digital lung sounds auscultationLung sounds will be recorded using a manual approach with a digital stethoscope | Diagnostic test | First-degree relatives of patients with FPF and sporadic IPF, Patients with FPF and sporadic IPF |
| Laboratory AssessmentsClinical laboratory tests will be collected from each participant | Diagnostic test | First-degree relatives of patients with FPF and sporadic IPF, Patients with FPF and sporadic IPF |
| DNA sequencingA sample of genomic DNA from peripheral blood lymphocytes will be collected for DNA sequencing | Genetic | First-degree relatives of patients with FPF and sporadic IPF, Patients with FPF and sporadic IPF |
Primary outcome
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
1 secondary outcome
Association between ILA and genetic variants
Time frame: At subject enrollment
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Jul 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Pulmonary Fibrosis and Idiopathic Pulmonary Fibrosis, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 25 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Luca Richeldi (0630157857, luca.richeldi@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of ILA (time frame: At subject enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Jul 2024.