Hereditary Influences on Pulmonary Fibrosis Trajectories

NCT07580053 | Active Not Recruiting

• 1 other identifier: Prot. Nr.721/25
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief Summary

The SHIFT (Hereditary Influences on Pulmonary Fibrosis Trajectories) study is a prospective, multicenter, observational cohort study designed to investigate familial pulmonary fibrosis (FPF) within the Italian population.

Conditions

Interstitial Lung Disease Due to Systemic Disease (Telomere Biology Disorder); Idiopathic Pulmonary Fibrosis (IPF); Telomere Disease; Progressive Pulmonary Fibrosis; Familial Pulmonary Fibrosis

Keywords

PROGRESSIVE PULMONARY FIBROSIS; INTERSTITIAL LUNG DISEASE; TELOMERE DISORDER; FAMILIAL PULMONARY FIBROSIS; IDIOPATHIC PULMONARY FIBROSIS

Outcome Measures

Primary Outcomes (1)

• annual relative FVC decline over the observation period

  The annual relative decline is defined as the difference between the final and the initial FVC value divided by the initial value, and it will be calculated for each year and for the entire follow-up period.

  Annual for 5 years

Secondary Outcomes (4)

• relative reduced annual FVC decline when compared to FPF patients treated with immunomodulator agents and FPF patients not treated in a 5-years period of FU.

  5 years

• mortality

  5 years

• Annual relative DLCO decline

  5 years

• incidence of lung and non-lung cancer

  5 years

Study Arms (1)

Familial pulmonary fibrosis

Eligible participants will be adults (≥18 years) with ILD documented on HRCT and with a positive genetic test, defined as the presence of rare variants or susceptibility polymorphisms consistent with the diagnosis of FPF.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with ILDs discussed in the multidisciplinary discussion to define FPF. Cases discussed will be documented using a standard CRF that detailed complete medical history including genetic test, physical examination, laboratory test results, pulmonary function test (PFT) results and, eventually, lung biopsy results and/or bronchoalveolar lavage (BAL) results. Pre-MDD diagnoses will be based on the referring pulmonologist's diagnosis and current consensus classification for ILDs. Post-MDD diagnosis will be classified according to Ryerson confidence terminology, with "confident diagnosis" reserved for \>90% clinical likelihood or a provisional diagnosis which was categorized as "high confidence" (70-89% likelihood) or "low confidence" (51-69% likelihood). Patients with less than 50% diagnostic confidence level post-MDD will be categorized as "unclassifiable ILD".

You may qualify if:

• A HRCT scan consistent with ILD diagnosis
• Age over 18 years old
• A genetic test proved variant or a polymorphism consistent with a diagnosis of FPF

You may not qualify if:

• Patients unable to perform pulmonary function tests

Sponsors & Collaborators

• Istituto Clinico Humanitas: lead
• University of Siena: collaborator
• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: collaborator
• Ospedale San Paolo: collaborator

Study Sites (1)

Francesco Amati

Rozzano, Italy, 20089, Italy

Location

Related Publications (2)

• Zhang D, Newton CA. Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications. Chest. 2021 Nov;160(5):1764-1773. doi: 10.1016/j.chest.2021.06.037. Epub 2021 Jun 26.

  PMID: 34186035 BACKGROUND

• Borie R, Kannengiesser C, Antoniou K, Bonella F, Crestani B, Fabre A, Froidure A, Galvin L, Griese M, Grutters JC, Molina-Molina M, Poletti V, Prasse A, Renzoni E, van der Smagt J, van Moorsel CHM. European Respiratory Society statement on familial pulmonary fibrosis. Eur Respir J. 2023 Mar 16;61(3):2201383. doi: 10.1183/13993003.01383-2022. Print 2023 Mar.

  PMID: 36549714 BACKGROUND

MeSH Terms

Conditions

Idiopathic Pulmonary Fibrosis; Lung Diseases, Interstitial

Condition Hierarchy (Ancestors)

Pulmonary Fibrosis; Lung Diseases; Respiratory Tract Diseases

Study Officials

• Francesco Amati, MD

  Humanitas Research Hospital IRCCS, Rozzano-Milan

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 20, 2026
• First Posted: May 12, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): December 1, 2034
• Study Completion (Estimated): December 1, 2034
• Last Updated: May 12, 2026

Record last verified: 2026-04

Locations

IT (1)