Clinical Genetics and Screening for Idiopathic Pulmonary Fibrosis

Last updated: July 22, 2024
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Overall Status: Active - Not Recruiting

Phase

N/A

Condition

Cystic Fibrosis

Idiopathic Pulmonary Fibrosis

Lung Injury

Treatment

Laboratory Assessments

DNA sequencing

High resolution Computed Tomography (HRCT) scans of the Chest

Clinical Study ID

NCT06521125
6869
  • Ages > 18
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

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 theinvestigator 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 ofthe same biological family

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

Exclusion

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 druginduced 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 controlleddepression according to the opinion of the investigators, suicidal ideation, orother psychiatric illness requiring hospitalization

  3. unwilling or unable to sign informed consent 400 first-degree relatives ofparticipating patients will be recruited

Study Design

Total Participants: 600
Treatment Group(s): 5
Primary Treatment: Laboratory Assessments
Phase:
Study Start date:
September 01, 2024
Estimated Completion Date:
September 01, 2026